Materiały źródłowe

• #1 Nail-patella syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/nail-patella-syndrome/

  Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family. […] Nail abnormalities are seen in almost all individuals with nail-patella syndrome. The nails may be absent or underdeveloped and discolored, split, ridged, or pitted. The fingernails are more likely to be affected than the toenails, and the thumbnails are usually the most severely affected. In many people with this condition, the areas at the base of the nails (lunulae) are triangular instead of the usual crescent shape. […] Individuals with nail-patella syndrome also commonly have skeletal abnormalities involving the knees, elbows, and hips. The kneecaps (patellae) are small, irregularly shaped, or absent, and dislocation of the patella is common. Some people with this condition may not be able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also be angled outward (cubitus valgus) or have abnormal webbing.

• #1 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  Nail patella syndrome (NPS) is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities. Ocular, renal, and neurological involvement can occur. […] Nail-patella syndrome can show decreased upper and lower extremity muscle mass resembling dystrophic muscular disease. […] Nail changes are present in 98% of patients with NPS and consist of absent, hypoplastic, or dystrophic fingernails and, to a lesser degree, the toenails. […] Similar to the nails, patients with NPS have absent, hypoplastic, or irregular patellae, which frequently sublux superolaterally, although the non-displaced position of the patella may be naturally lateral and superior. […] Extraskeletal systemic manifestations of NPS are notable for renal, ophthalmic, and neurological involvement. Renal involvement has been reported in 30-60% of patients with NPS, and the degree of severity is the dominant factor that influences mortality, as progression to renal failure can occur rapidly and in as much as 10% of patients.

• #1 Nail patella syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/nail-patella-syndrome

  Nail patella syndrome is a rare genetic condition that can cause problems with the nails, bones and kidneys. […] Almost everyone with nail patella syndrome has abnormal nails. Many people also have problems with their knee caps (patellae), elbows and pelvis. […] Some of the problems will be obvious from birth. But others may not become clear until later on. […] There are several symptoms and problems associated with nail patella syndrome. […] Nails may be missing, underdeveloped, discoloured, split, ridged or pitted. […] Thumbnails are most severely affected, with each fingernail being less severely affected from the index finger to the little finger. […] Toenails are usually less affected by the condition. […] The kneecaps may be missing, small, irregularly shaped and easily dislocated, and can click, lock or may feel unstable or painful.

• #1 Nail–patella syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Nail%E2%80%93patella_syndrome

  Nailpatella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who with nailpatella syndrome: Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%. In instances in which the patellae are smaller or luxated, the knees may be unstable. The elbows may have limited motion (e.g., limited pronation, supination, extension). Subluxation of the radial head may occur. Arthrodysplasia of the elbows is reported in approximately 90% of patients. General hyperextension of the joints can be present. Exostoses arising from the posterior aspect of the iliac bones („iliac horns”) are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. Other reported bone changes include scoliosis, scapular hypoplasia, and the presence of cervical ribs. Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). Side effects may include frequent headaches, blurred vision, or total vision loss. This occurs gradually over time and symptoms may not be evident in children. Kidney issues may arise such as deposition of protein in the urine and nephritis. Proteinuria is usually the first sign of kidney involvement. It can reveal itself either rapidly or years after having asymptomatic deposition of protein in the urine, kidney failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear.

• #1 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  Almost everyone with nail patella syndrome has abnormal nails, and many people also have problems with their knee caps (patellae), elbows and pelvis. […] Some of the problems will be obvious from birth, but others may not become apparent until later on. […] There are several symptoms and problems associated with nail patella syndrome. […] Nails may be missing, underdeveloped, discoloured, split, ridged or pitted. […] The kneecaps may be missing, small, irregularly shaped and easily dislocated, and can click, lock or may feel unstable or painful. […] Some people aren’t able to fully extend their arms or turn their palms up while keeping their elbows straight. […] There may be protein in the urine (an early sign of kidney problems), which can be accompanied by blood in the urine. This can sometimes progress to kidney disease.

• #1 Nail-Patella Syndrome: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/nail-patella-syndrome

  Nail-patella syndrome may lead to: Osteoarthritis in your childs kneecaps and/or elbows at an earlier age than expected, Vision loss (if glaucoma isnt treated), Kidney failure. […] Nail-patella syndrome usually doesnt affect a persons life expectancy. The exception is if severe kidney disease develops. This complication can affect prognosis and how long a person lives. Some people need kidney transplantation.

• #1 Nail-patella syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/nail-patella-syndrome/

  Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. […] Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.

• #1 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  The most common ophthalmic findings are open-angle glaucoma and ocular hypertension, which present earlier in patients with NPS compared to the unaffected population but are treatable and preventable with screening measures. […] Common neurological symptoms can include numbness, tingling, and neuropathic pain in a non-peripheral nerve or dermatomal pattern, which affect the distal more so than the proximal limb. […] Renal failure is an uncommon but serious complication and the primary influencer of patient mortality. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood.

• #1 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  People with nail patella syndrome may also have increased pressure in the eyes (glaucoma) which can develop at an earlier age than usual, numbness, tingling or a burning sensation in the hands and feet, poor blood circulation in the hands and feet, constipation or irritable bowel syndrome (IBS), difficulty putting on weight, particularly muscle, thin bones (osteoporosis), particularly in the hips, a high forehead and hairline. […] There’s no cure for nail patella syndrome, but treatments are available to help manage the symptoms. […] If your kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting and bracing may help. […] Urine tests should be carried out at birth to check for kidney problems. High levels of protein in the urine may need to be treated with medication. […] Kidney problems may occur during (or be made worse by) pregnancy in women who have nail patella syndrome. […] Screening for glaucoma should start as soon as a child is able to co-operate with the examination.

• #1 Nail patella syndrome: Causes, symptoms, treatment, inheritance

  https://www.medicalnewstoday.com/articles/nail-patella-syndrome

  If the condition affects the elbows, the parts of the bone that meet at the elbow may be small and underdeveloped. A person may also develop webbing of the skin at the bend of the elbow. […] Most people with NPS develop bilateral iliac horns, which are projections of bone on the hip bones. […] Other possible symptoms include: underdeveloped shoulder blades, scoliosis, which is a sideways curve in the spine, glaucoma, cataracts, color changes of the iris, unusually small corneas, kidney problems. […] A person who has received a diagnosis of NPS will likely need yearly screenings to check for the development of complications such as reduced kidney function, problems with the eyes, and high blood pressure. […] With monitoring and treatment, a person with NPS can generally maintain a high quality of life. However, the conditions potential effects on the kidneys may influence a persons overall outcome.

• #1

  https://www.omim.org/entry/161200

  The prevalences of glaucoma and ocular hypertension were 9.6% and 7.2%, respectively. […] To examine bone mass and the prevalence of fragility fractures in patients with nail-patella syndrome, Towers et al. (2005) assessed bone mineral density (BMD) of the spine and hip in 31 adults and 12 children with mutation-confirmed NPS and 60 healthy age- and gender-matched adult controls. For the adults with NPS, BMD was 11 to 20% lower at the hip sites and 8% lower at the spine than that of controls. Towers et al. (2005) concluded that adults with NPS have a BMD that is 8 to 20% lower than controls, which is associated with an increase in the prevalence of fractures and scoliosis.

• #1 Nail-Patella Syndrome (NPS) | Kellogg Eye Center | Michigan Medicine

  https://www.umkelloggeye.org/conditions-treatments/nail-patella-syndrome

  Loss of peripheral (side) vision […] Blind spots […] Need for frequent changes in glasses […] Difficulty in adjusting to a dark room […] Blurred vision […] Sore, reddened eyes […] Appearance of halos or rainbows around lights […] Severe headaches, nausea and eye pain in rare cases.

• #1 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  Nail-patella syndrome (NPS) is a multisystemic disorder characterized by significant inter- and intrafamilial variability in clinical manifestations and severity of the disease. […] The classical tetrad involves nails dysplasia, absent or hypoplastic patellae, presence of iliac horns, and elbow deformities. […] Adults can have a slight lower bone mineral density of the hip and spine (8 -20%) leading to a higher risk of fractures and scoliosis. […] Glaucoma and ocular hypertension have been described in NPS patients and may require early ophthalmological screening. […] Renal complications are reported in 30-60% of the cases. […] Other extraskeletal abnormalities described are loss of the normal skin creases over the distal interphalangeal joints and, neurological symptoms such as numbness, tingling and neuropathic pain.

• #1 Nail-Patella Syndrome – symptoms, Definition, Description, Demographics, Causes and symptoms, Diagnosis, Treatment

  http://www.healthofchildren.com/N-O/Nail-Patella-Syndrome.html

  Eye problems may be present and vary from person to person. Nail-patella syndrome is thought to be associated with open-angle glaucoma, a condition caused by blockage of the outflow of fluid (aqueous humor) from the front chamber of the eyes. […] Symptoms vary from person to person and for one person through time. The long-term prognosis is extremely variable. One person may exhibit mild symptoms, while another person may become wheelchair-bound or require a kidney transplant.

• #1 Nail-patella syndrome | About the Disease | GARD

  https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome

  Nail-patella syndrome causes changes in the nails, elbows, kneecaps (patellae), and hip bone. The most common symptom of the syndrome is having missing or underdeveloped fingernails and toenails. Other symptoms may include having small or missing kneecaps, underdeveloped elbows, and an extra small piece of bone on both sides of the hip (called iliac horns). People with Nail-patella syndrome are at an increased risk for developing high fluid pressure in the eye (glaucoma) and kidney disease. […] Symptoms of this disease may start to appear from Birth to Childhood. […] The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. […] Symptoms may start to appear from Birth to Childhood.

• #1 A Simple Guide to Nail Patella Syndrome, Diagnosis, Treatment and Related Conditions by Kenneth Kee | eBook | Barnes & Noble®

  https://www.barnesandnoble.com/w/a-simple-guide-to-nail-patella-syndrome-diagnosis-treatment-and-related-conditions-kenneth-kee/1143702295

  The most serious complication linked with nail-patella syndrome is nephropathy. […] Nail and skeletal abnormalities are normally stable throughout life, even though joint pain and limited mobility may produce discomfort. […] Kidney involvement can range from mild proteinuria to more severe kidney disorder but not all persons with the syndrome develop kidney disorders.

• #1 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  The management and treatment is focused on the clinical manifestations, which may require a multidisciplinary team. […] Early ocular and renal screening may be helpful and a medical follow up can be required if any alteration is identified. […] Patients with NPS live a normal lifespan. The renal pathology is a major determinant of the prognosis, as proteinuria, hypertension, and hematuria occur in 30 – 60% of the patients; 5 % progress to chronic renal failure.

• #1 Nail Patella Syndrome | International Center for Limb Lengthening

  https://www.limblength.org/conditions/nail-patella-syndrome/

  The most common symptoms of nail patella syndrome include underdeveloped nailbeds of the fingers and toes (98%), small or absent kneecaps, inability to fully extend elbows due to growth issues of bones, and extra bone growths on the hip bones. […] In addition, patients are at increased risk for kidney issues and increased pressure in the eye. […] Complications of nail patella syndrome include recurrent kneecap dislocations, glaucoma, and kidney problems. Left untreated, patients can develop arthritis, possible blindness and end stage kidney disease needing a transplant.

• #1 My journey with Nail Patella Syndrome and rare neurological conditions – Rare Disease Day 2026

  https://www.rarediseaseday.org/heroes/my-journey-with-nail-patella-syndrome-and-rare-neurological-conditions/

  For me, Nail Patella Syndrome affects my joints, specifically my knees, elbows, and fingers. I also have underdeveloped nails, kidney disease, some eye involvement, and other associated symptoms. […] Living with these conditions means that I have had to learn to manage pain and fatigue, both physically and mentally. I’ve had to find ways to cope with the constant pain and discomfort, while still pursuing my passions and goals. […] Many people have never heard of these conditions, and even healthcare professionals may be unfamiliar with them, the symptoms and treatment options. This can lead to delayed diagnoses and ineffective treatments, which can be incredibly frustrating and disheartening.

• #1 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  The treatment (median dose of 900 mg/day) was associated with a significant reduction in pain intensity (mean score of 7.040.24 at initiation versus 4.040.38 at 3 months, N=28, p0.0001), which correlated with changes in the peripheral concentration of noradrenaline (r=0.705, 95% CI [0.440.86], p0.0001). […] Health-related quality of life and other NPS-associated symptoms also improved in most patients. […] CBD treatment was well tolerated and no elevations in liver enzyme levels were reported. […] This study provided the first evidence supporting the effectiveness of a dose-increasing schedule of oral CBD for reducing pain intensity in patients with NPS. […] Oral treatment with synthetic CBD was associated with a significant reduction in pain in most of the patients with NPS included in our study, and led to improvements in most of the NPS-associated symptoms analyzed. Hence, synthetic oral CBD appears to be a safe and effective treatment option for NPS-associated pain, and may be an alternative to conventional analgesics for managing chronic pain in this pathology.

• #1 Genetics of Nail-Patella Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947391-overview

  Proteinuria with or without hematuria occurs in 30-50% of affected individuals, but progresses to end-stage renal disease in approximately 5% of patients. […] Pes planus is seen in majority of patients with nail-patella syndrome. These patients also tend to have an overall typically thin body habitus, and they have difficulty gaining weight. Other findings on physical examination may include the following: Nail/digit anomalies – Nails may be absent, hypoplastic, or dystrophic; triangular lunulae may be the sole nail anomaly; decreased creases over the distal interphalangeal (DIP) joints are noted. Patellar anomalies – Patellae may be absent or hypoplastic; dislocation in the superior and lateral direction is common; pain is also common, and osteoarthritis may be present. Iliac horns – These bony prominences are typically asymptomatic and may be palpable on the posterolateral iliac bones. Elbow anomalies – Decreased flexion, supination, and pronation are noted; the radius may be hypoplastic and posteriorly placed; skin webbing (pterygia) may be present. Renal disease – Proteinuria with or without hematuria may be present in 30-50% of patients; this progresses to end-stage renal disease in approximately 5%. Open-angle glaucoma. Lester sign – A hyperpigmented, irregular ring in the iris may be noted. […] Prognosis is determined by the associated abnormalities, mainly nephropathy. The incidence of nephropathy in nail-patella syndrome is reported to be approximately 40% among patients with various degrees of dysfunction. Of these patients, 10% die of renal insufficiency.

• #1 SciELO Brazil – Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding* Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding*

  https://www.scielo.br/j/abd/a/vHQNkSMVTD49WxBJ86vJR4G/

  Therefore, the early identification of NPS is fundamental to initiate the screening and management of these complications, since this is a disease without cure. In the case reported, the dermatological finding of the triangular lunula, pathognomonic of the syndrome in question, made it possible the confirmatory investigation of the disease, the clarification of the symptoms to the patient and the approach that should be performed from this diagnosis.

• #1 NAIL-PATELLA SYNDROME: DIAGNOSIS AND MANAGEMENT IN A CHIROPRACTIC SETTING– A CASE REPORT | Published in Journal of Contemporary Chiropractic

  https://journal.parker.edu/article/78042-nail-patella-syndrome-diagnosis-and-management-in-a-chiropractic-setting-a-case-report

  A 6.5-year-old boy had consistent right knee pain primarily at night with no known mechanism of injury. […] Patients may have a variety of symptoms, including musculoskeletal pain, knee dislocation, decreased elbow range of motion and abnormal nail formation. […] Nail changes are the most constant feature of NPS. […] The imaging would help by visualizing the painful nodule and guiding management. Imaging showed the aplastic patella on the right. […] Pain was tracked by verbal confirmation from the child and his parents and showed a decrease and no more waking up at night. […] Early intervention has also seen to be beneficial in a study that looked at the social and emotional impact NPS can have on individuals as well as the measures were taken for early detection of eye and kidney issue developments.

• #1 Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology | SICOT-JMendeley

  https://www.sicot-j.org/articles/sicotj/full_html/2016/01/sicotj150179/sicotj150179.html

  Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. […] Most NPS patients present with knee symptoms. Regularly they have anterior knee pain and patellar instability in both knees. The hypoplastic patellae are generally laterally subluxated or dislocated. […] In patients with NPS, hypoplastic and laterally subluxated or dislocated patellae and anterior knee pain are common. […] After surgical treatment of both symptomatic knees with septum resection and proximal patella realignment, there were no complications or revisions during a follow-up of over 10 years. Postoperatively, the hypoplastic patellae stayed centered and stable in both knees during further skeletal development upon clinical and radiographical examinations. The patient was pain free with full range of motion (0/0/140°) of both operated knee joints 10 years postoperatively. […] We recommend early arthroscopic septum resection before school enrollment of the patient. If necessary, proximal realignment of the patella should be performed simultaneously.

• #1 Nail Patella Syndrome: Understanding Symptoms, Causes, and Management • Yesil Health

  https://yesilhealth.com/your-health/nail-patella-syndrome-understanding-symptoms-causes-and-management/

  Early diagnosis is crucial for managing symptoms and preventing complications associated with Nail Patella Syndrome. If you or someone you know is experiencing symptoms, it is essential to consult a healthcare professional for a comprehensive evaluation. […] While there is currently no cure for Nail Patella Syndrome, various treatment options can help manage symptoms and improve the quality of life for those affected. Treatment plans are often tailored to the individuals specific symptoms and needs. […] By understanding the complications associated with Nail Patella Syndrome and implementing effective management strategies, individuals can improve their quality of life and navigate the challenges of this condition more effectively.

• #1 Nail-Patella Syndrome: Exploring the Genetics, Symptoms, and Management of this Rare Disorder – DoveMed

  https://www.dovemed.com/health-topics/focused-health-topics/nail-patella-syndrome-exploring-genetics-symptoms-and-management-rare-disorder

  The clinical features of Nail-Patella Syndrome can vary in severity among affected individuals. Common symptoms and features include: […] Joint problems: Joint pain, stiffness, and limited range of motion can occur, affecting mobility and daily activities. […] Regular follow-up visits with a multidisciplinary medical team, including orthopedic specialists, nephrologists, and genetic counselors, are essential to monitor the progression of symptoms, manage complications, and provide comprehensive care.

• #1 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). […] Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. […] The syndrome-related symptoms included nail hypoplasia in the upper extremities, decreased flexibility at the elbow joints, contractures at both ankles and slight deformity of the cranial bones. […] Renal involvement of the disease may have a wide spectrum ranging from trace proteinuria to end-stage renal disease. Thus, close follow-up of renal functions and avoiding complications like preeclampsia in patients with nail-patella syndrome is the key point in follow-up of the disease. […] The most frequent renal finding is asymptomatic proteinuria, which occurs in 40% of cases.

• #1 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  Most patients had a silent course of renal disease, but this syndrome may lead to end stage renal disease in 15% of cases. […] Having normal renal function seems to be one of the most important points for preserving renal function during the pregnancy and avoiding complications such as preeclampsia or gestational hypertension. […] It is critical to maintain normal pregestational renal function to avoid complications such as preeclampsia which is predisposed by nail-patella syndrome. […] Despite the evident risk of preeclampsia in pregnancy, patients with nail-patella syndrome may have good obstetric outcomes with regular and strict follow-up performed at a tertiary center. The most important predictors seem to be normal renal function and the absence of marked proteinuria during the pregestational period.

• #2 Nail patella syndrome

  https://www.nhs.uk/conditions/nail-patella-syndrome/

  Almost everyone with nail patella syndrome has abnormal nails, and many people also have problems with their knee caps (patellae), elbows and pelvis. […] Some of the problems will be obvious from birth, but others may not become apparent until later on. […] There are several symptoms and problems associated with nail patella syndrome. […] Nails may be missing, underdeveloped, discoloured, split, ridged or pitted. […] The kneecaps may be missing, small, irregularly shaped and easily dislocated, and can click, lock or may feel unstable or painful. […] Some people aren’t able to fully extend their arms or turn their palms up while keeping their elbows straight. […] There may be protein in the urine (an early sign of kidney problems), which can be accompanied by blood in the urine. This can sometimes progress to kidney disease.

• #2 Nail patella syndrome: Causes, symptoms, treatment, inheritance

  https://www.medicalnewstoday.com/articles/nail-patella-syndrome

  Nail patella syndrome (NPS) is a rare genetic disorder. The symptoms vary depending on which areas of the body it affects. It commonly affects the nails, knees, elbows, and hips but can also affect the kidneys, the eyes, and other areas. […] The most common symptom is the appearance of underdeveloped or missing toenails or fingernails. However, NPS can also affect a persons: elbows, kneecaps, hip bones. […] Symptoms of NPS can vary from person to person. […] Nail changes are the most common symptom, affecting 98% of people with the condition. NPS most often affects the thumbnails but can mildly affect the other fingernails. […] The nails may be: small and narrow, ridged, split, unusually thick, discolored, indented. […] NPS can affect the knees as well. The kneecaps may be small, underdeveloped, misshaped, or absent. This can cause a person to experience: partial dislocation of the knee, limited range of movement, stiffness, tenderness, pain.

• #2 Genetics of Nail-Patella Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947391-overview

  Nail-patella syndrome (NPS) is an autosomal dominant condition characterized by the classical clinical tetrad of nail dysplasia, patellar aplasia-hypoplasia, elbow arthrodysplasia, and iliac horns. The nails may be absent, hypoplastic, or dystrophic with ridges, pits, and/or triangular lunulae. […] Typically, nail anomalies are symmetrical; the thumbs are most severely affected, and severity decreases progressing toward the fifth digit. The patella may be absent, small, or irregularly shaped. Dislocation in a superior and lateral direction is common if patellae are present. Elbow anomalies may include decreased extension, pronation, supination, and/or pterygia. Patellae and elbow anomalies may be asymmetrical. The iliac horns are bony prominences that project posterolaterally from the iliac bones. Although rarely palpable, they are radiographically visible in most patients with nail-patella syndrome.

• #2 Nail-Patella Syndrome – symptoms, Definition, Description, Demographics, Causes and symptoms, Diagnosis, Treatment

  http://www.healthofchildren.com/N-O/Nail-Patella-Syndrome.html

  Patients who have nail-patella syndrome may show a variety of physical defects. The most common features of this syndrome are missing or poorly developed fingernails, toenails, and patellae (kneecaps). […] Symptoms even vary within a single family with multiple affected members. […] Medical signs of nail-patella syndrome vary widely between patients. Some patients with this disorder do not display symptoms. […] The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails. Fingernail abnormalities are found in about 98 percent of children with this disorder. […] Kneecap abnormalities, present in about 92 percent of children with this disorder, are the second most common sign associated with this disorder. […] Kidney disease is present in about 30 to 50 percent of people with nail-patella syndrome.

• #2 Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology | SICOT-JMendeley

  https://www.sicot-j.org/articles/sicotj/full_html/2016/01/sicotj150179/sicotj150179.html

  Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. In most cases knees are symptomatic. Patients have hypoplastic patellae, which are laterally subluxated. […] Most NPS patients present with knee symptoms. Regularly they have anterior knee pain and patellar instability in both knees. The hypoplastic patellae are generally laterally subluxated or dislocated. […] In patients with NPS, hypoplastic and laterally subluxated or dislocated patellae and anterior knee pain are common. […] After surgical treatment of both symptomatic knees with septum resection and proximal patella realignment, there were no complications or revisions during a follow-up of over 10 years. Postoperatively, the hypoplastic patellae stayed centered and stable in both knees during further skeletal development upon clinical and radiographical examinations. The patient was pain free with full range of motion (0/0/140°) of both operated knee joints 10 years postoperatively. […] We recommend early arthroscopic septum resection before school enrollment of the patient. If necessary, proximal realignment of the patella should be performed simultaneously.

• #2 Nail-patella syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/nail-patella-syndrome/

  Many individuals with nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis (iliac horns). These abnormal projections may be felt through the skin, but they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac horns are very common in people with nail-patella syndrome and are rarely, if ever, seen in people without this condition. […] Other areas of the body may also be affected in nail-patella syndrome, particularly the eyes and kidneys. Individuals with this condition are at risk of developing increased pressure within the eyes (glaucoma) at an early age. Some people develop kidney disease, which can progress to kidney failure.

• #2 Nail–patella syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Nail%E2%80%93patella_syndrome

  Nailpatella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who with nailpatella syndrome: Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%. In instances in which the patellae are smaller or luxated, the knees may be unstable. The elbows may have limited motion (e.g., limited pronation, supination, extension). Subluxation of the radial head may occur. Arthrodysplasia of the elbows is reported in approximately 90% of patients. General hyperextension of the joints can be present. Exostoses arising from the posterior aspect of the iliac bones („iliac horns”) are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. Other reported bone changes include scoliosis, scapular hypoplasia, and the presence of cervical ribs. Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). Side effects may include frequent headaches, blurred vision, or total vision loss. This occurs gradually over time and symptoms may not be evident in children. Kidney issues may arise such as deposition of protein in the urine and nephritis. Proteinuria is usually the first sign of kidney involvement. It can reveal itself either rapidly or years after having asymptomatic deposition of protein in the urine, kidney failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear.

• #2 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  Nail-patella syndrome (NPS) is a multisystemic disorder characterized by significant inter- and intrafamilial variability in clinical manifestations and severity of the disease. […] The classical tetrad involves nails dysplasia, absent or hypoplastic patellae, presence of iliac horns, and elbow deformities. […] Adults can have a slight lower bone mineral density of the hip and spine (8 -20%) leading to a higher risk of fractures and scoliosis. […] Glaucoma and ocular hypertension have been described in NPS patients and may require early ophthalmological screening. […] Renal complications are reported in 30-60% of the cases. […] Other extraskeletal abnormalities described are loss of the normal skin creases over the distal interphalangeal joints and, neurological symptoms such as numbness, tingling and neuropathic pain.

• #2 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  Nail patella syndrome (NPS) is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities. Ocular, renal, and neurological involvement can occur. […] Nail-patella syndrome can show decreased upper and lower extremity muscle mass resembling dystrophic muscular disease. […] Nail changes are present in 98% of patients with NPS and consist of absent, hypoplastic, or dystrophic fingernails and, to a lesser degree, the toenails. […] Similar to the nails, patients with NPS have absent, hypoplastic, or irregular patellae, which frequently sublux superolaterally, although the non-displaced position of the patella may be naturally lateral and superior. […] Extraskeletal systemic manifestations of NPS are notable for renal, ophthalmic, and neurological involvement. Renal involvement has been reported in 30-60% of patients with NPS, and the degree of severity is the dominant factor that influences mortality, as progression to renal failure can occur rapidly and in as much as 10% of patients.

• #2 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Due to the patient’s advanced kidney disease, a biopsy was not performed. Normochromic normocytic anemia, metabolic acidosis, hyperkalemia and hyperphosphatemia were all clear signs of ESRD due to NPS in our patient. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. […] Genetic counseling, when available, should be offered to all patients with NPS.

• #2 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyter.com/document/doi/10.1515/crpm-2018-0016/html?lang=en

  Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). […] Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. […] The syndrome-related symptoms included nail hypoplasia in the upper extremities, decreased flexibility at the elbow joints, contractures at both ankles and slight deformity of the cranial bones. […] Renal involvement of the disease may have a wide spectrum ranging from trace proteinuria to end-stage renal disease. Thus, close follow-up of renal functions and avoiding complications like preeclampsia in patients with nail-patella syndrome is the key point in follow-up of the disease. […] The most frequent renal finding is asymptomatic proteinuria, which occurs in 40% of cases.

• #2 Nail-Patella Syndrome (NPS) | Kellogg Eye Center | Michigan Medicine

  https://www.umkelloggeye.org/conditions-treatments/nail-patella-syndrome

  Loss of peripheral (side) vision […] Blind spots […] Need for frequent changes in glasses […] Difficulty in adjusting to a dark room […] Blurred vision […] Sore, reddened eyes […] Appearance of halos or rainbows around lights […] Severe headaches, nausea and eye pain in rare cases.

• #2 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  The most dangerous complications of Nail-Patella Syndrome (NPS) are a type of eye disease called acute open-angle glaucoma and kidney failure. Around 17% of people over 40 with NPS have been found to have glaucoma, but luckily with early detection, it can usually be treated or even prevented. […] The scariest thing about NPS, though, is that it can lead to kidney failure, which can often result in death. The progression to kidney failure in Nail-Patella Syndrome can happen very quickly or may take several years, and we don’t fully understand why.

• #2 Nail-Patella Syndrome: Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/nail-patella-syndrome

  Nail-patella syndrome affects how your childs nails and bones form. It typically affects the size and shape of their fingernails, kneecaps and/or elbows. Some people with this syndrome develop glaucoma or kidney disease. Providers can treat symptoms to help your child move around more comfortably and lower their risk of complications. […] Nail-patella syndrome can cause certain parts of your childs body to look and/or function differently than expected. Heres a breakdown of the most common signs and symptoms in different areas: […] Your child may develop increased pressure in their eyes (ocular hypertension), which can progress to glaucoma. There often arent any symptoms, but your child may notice mild headaches, halos around lights or blurry vision. […] About 4 in 10 people with nail-patella syndrome develop kidney disease either as a child or adult. It can range from mild to life-threatening. Mild kidney disease may gradually or suddenly become more severe.

• #2 Nail-Patella Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559190/

  The most common ophthalmic findings are open-angle glaucoma and ocular hypertension, which present earlier in patients with NPS compared to the unaffected population but are treatable and preventable with screening measures. […] Common neurological symptoms can include numbness, tingling, and neuropathic pain in a non-peripheral nerve or dermatomal pattern, which affect the distal more so than the proximal limb. […] Renal failure is an uncommon but serious complication and the primary influencer of patient mortality. […] The most potentially serious complications of NPS are acute open-angle glaucoma and renal failure. The progression to renal failure in patients with NPS nephropathy can occur rapidly or after many years for reasons that are not fully understood.

• #2 Genetics of Nail-Patella Syndrome Clinical Presentation: History, Causes, Physical Examination

  https://emedicine.medscape.com/article/947391-clinical

  Preeclampsia: This condition is more common in patients with nail-patella syndrome than in the general population. […] Neurology: Attention deficit disorder with and without hyperactivity (ADHD) may be more common in adults with nail-patella syndrome and does not exhibit the same increased male prevalence as in the general population. Major depressive symptoms may also be part of the syndrome. A significant proportion of patients exhibit decreased sensitivity to pain and temperature in the extremities. Signs and symptoms of chronic fatigue may be present due to maldevelopment of the serotonergic system. […] GI problems: Constipation and irritable bowel syndrome are more common in patients with nail-patella syndrome than in the general population. […] Nail dysplasia and patellar hypoplasia are essential findings for diagnosis of nail-patella syndrome (NPS). Other diagnostic features are hypoplasia of the radial head and iliac prominences, which are known as iliac horns. Renal complications and ophthalmologic problems can accompany NPS.

• #2

  https://99nicu.org/forums/topic/305-nail-patella-syndrome/

  The NailPatella Syndrome (Fong Syndrome) is inherited as autosomal dominant (AD). Is caused by a defect in the LMX1B gene that is characterized by hypoplastic patella, nail dystrophy with triangular lunula, posterior iliac horns, pigmentation of the margin of the pupils (Lester iris), and glomerulonephropathy. Triangular nail lunulae is the pathognomonic sign of this syndrome. […] In addition to ocular and renal involvement, recently neurological and gastrointestinal symptoms have also been described including depression and anxiety symptoms, epilepsy, peripheral neurological symptoms, irritable bowel syndrome and constipation. […] Nail dysplasia (bilateral and symmetrical) is usually present at birth, but it has been noted to appear after birth. […] Some patients may have joint contractures noticed at birth. Gastrointestinal symptoms may also start right from birth. […] You will find in this article that the diagnosis of NPS though possible at birth is often missed at this time, and discovered later on if at all discovered.

• #2 My journey with Nail Patella Syndrome and rare neurological conditions – Rare Disease Day 2026

  https://www.rarediseaseday.org/heroes/my-journey-with-nail-patella-syndrome-and-rare-neurological-conditions/

  For me, Nail Patella Syndrome affects my joints, specifically my knees, elbows, and fingers. I also have underdeveloped nails, kidney disease, some eye involvement, and other associated symptoms. […] Living with these conditions means that I have had to learn to manage pain and fatigue, both physically and mentally. I’ve had to find ways to cope with the constant pain and discomfort, while still pursuing my passions and goals. […] Many people have never heard of these conditions, and even healthcare professionals may be unfamiliar with them, the symptoms and treatment options. This can lead to delayed diagnoses and ineffective treatments, which can be incredibly frustrating and disheartening.

• #2 Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study | Scientific Reports

  https://www.nature.com/articles/s41598-024-79239-9

  Nail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain. […] Chronic pain is a major concern for patients with nail-patella syndrome (NPS) and has a major impact on patient quality of life (QoL). […] Bone symptoms and cartilage inflammation are the main causes of chronic pain in patients with NPS. […] Patients with NPS have arthropathies that cause recurrent nociceptive pain and impaired perception of afferent sensory neuron stimuli leading to numbness, tingling, and neuropathic pain, which predominantly affects the distal limbs in a non-peripheral nerve or dermatomal pattern and can become chronic. […] The interweaving of chronic musculoskeletal pain with nociceptive, neuropathic, and psychological components makes the pain associated with NPS difficult to manage with conventional analgesics.

• #2 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  The management and treatment is focused on the clinical manifestations, which may require a multidisciplinary team. […] Early ocular and renal screening may be helpful and a medical follow up can be required if any alteration is identified. […] Patients with NPS live a normal lifespan. The renal pathology is a major determinant of the prognosis, as proteinuria, hypertension, and hematuria occur in 30 – 60% of the patients; 5 % progress to chronic renal failure.

• #2 Nail-Patella Syndrome – DoveMed

  https://www.dovemed.com/diseases-conditions/nail-patella-syndrome

  Skeletal dysplasia […] Thickening of the lateral border of the scapula. […] Frequently present symptoms in 30-79% of the cases: […] Joint swelling […] Nephrotic syndrome […] Osteoarthritis […] Patellar aplasia […] Proteinuria. […] Occasionally present symptoms in 5-29% of the cases: […] Cataract […] Glaucoma […] Glomerulopathy […] Hearing impairment […] Hematuria […] Hypertension […] Nephropathy […] Renal insufficiency […] Vasculitis. […] The prognosis of Nail-Patella Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. […] In about 5% of the cases, end-stage renal disease is reported to occur, necessitating kidney transplantation.

• #2 Nail patella syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/nail-patella-syndrome

  If your kneecaps are easily dislocated and painful, painkillers, physiotherapy, splinting and bracing may help. […] Urine tests should be carried out at birth to check for kidney problems. High levels of protein in the urine may need to be treated with medication. […] Kidney problems may occur during (or be made worse by) pregnancy in women who have nail patella syndrome. […] It’s recommended that pregnant women with the condition have their blood pressure taken and urine tested regularly. […] Screening for glaucoma should start as soon as a child is able to co-operate with the examination.

• #2 Nail Patella Syndrome: Understanding Symptoms, Causes, and Management • Yesil Health

  https://yesilhealth.com/your-health/nail-patella-syndrome-understanding-symptoms-causes-and-management/

  Early diagnosis is crucial for managing symptoms and preventing complications associated with Nail Patella Syndrome. If you or someone you know is experiencing symptoms, it is essential to consult a healthcare professional for a comprehensive evaluation. […] While there is currently no cure for Nail Patella Syndrome, various treatment options can help manage symptoms and improve the quality of life for those affected. Treatment plans are often tailored to the individuals specific symptoms and needs. […] By understanding the complications associated with Nail Patella Syndrome and implementing effective management strategies, individuals can improve their quality of life and navigate the challenges of this condition more effectively.

• #2

• #2 Nail-patella syndrome | qualifyingconditions

  https://www.qualifyingconditions.com/copy-of-muscle-spasms-severe

  Nail-patella syndrome (NPS) is a genetic disorder that causes abnormalities in the nails, and sometimes the knees, elbows and pelvis. […] Nearly all individuals with nail-patella syndrome experience abnormalities with their nails, which could be absent, underdeveloped and discolored, ridged, pitted or split. […] The kneecaps, for example, could be absent, small, irregular shaped or dislocated. […] NPS also increases the risk of developing glaucoma because of increased pressure within the eyes and, according to the National Organization for Rare Disorders, 30 to 40% of individuals with NPS will develop kidney disease. […] The treatment approach for NPS can include surgery to replace kneecaps or reconstruct or correct abnormal bones at the knees or elbows. […] Joint malformations and instability can cause chronic, severe pain, so medications may be used to help manage discomfort.

• #2 Rare Disease Education: Nail-Patella Syndrome

  https://sdgresources.relx.com/features/rare-disease-education-nail-patella-syndrome

  As the name implies, its hallmark signs are improper development of the nails, especially on thumbs, as well as malformed or missing kneecaps (patellae). The kneecap issue, along with commonly present issues with the elbows, can limit the range of motion of the limbs and make it harder to perform tasks and activities. […] Nail-Patella Syndrome is a genetic disorder that affects approximately one in 50 thousand people and typically runs in families with 90% of people with this Zebra having an affected parent. When suspected, genetic testing for LMX1B mutations confirms the diagnosis. Treatment is directed towards specific symptoms but usually requires coordination between a team of different specialists.

• #2 Nail-Patella Syndrome: Exploring the Genetics, Symptoms, and Management of this Rare Disorder – DoveMed

  https://www.dovemed.com/health-topics/focused-health-topics/nail-patella-syndrome-exploring-genetics-symptoms-and-management-rare-disorder

  The clinical features of Nail-Patella Syndrome can vary in severity among affected individuals. Common symptoms and features include: […] Joint problems: Joint pain, stiffness, and limited range of motion can occur, affecting mobility and daily activities. […] Regular follow-up visits with a multidisciplinary medical team, including orthopedic specialists, nephrologists, and genetic counselors, are essential to monitor the progression of symptoms, manage complications, and provide comprehensive care.

• #2 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyterbrill.com/document/doi/10.1515/crpm-2018-0016/html?srsltid=AfmBOoodOpVYJGaDH0paP97yqvP9xeFVZzHvSwHohF83BrdF8EeSEoMN

  Our patient had normal renal function with only minimal proteinuria during the pregestational period. Having normal renal function seems to be one of the most important points for preserving renal function during the pregnancy and avoiding complications such as preeclampsia or gestational hypertension. […] Despite our patients successful consecutive pregnancies, it is difficult to predict the course of renal function in such pregnancies, and a close follow-up must be performed for every pregnant patient with nail-patella syndrome. The most important prognostic factor seems to be pregestational renal function and abnormalities for pregnancy outcomes and complications, as shown in our case. […] It is critical to maintain normal pregestational renal function to avoid complications such as preeclampsia which is predisposed by nail-patella syndrome.

• #3 SciELO Brazil – Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding* Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding*

  https://www.scielo.br/j/abd/a/vHQNkSMVTD49WxBJ86vJR4G/

  The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. […] At physical examination, anomalies in the patella correspond to hypoplasia or aplasia in more than 90% of cases, and it is possible to identify dystrophic fingernails or triangular lunula, and the feet are rarely affected. NPS includes vasomotor manifestations, such as cold sensation despite high temperatures. Neurologic manifestations are reported by 25% of the patients, such as decreased sensitivity to pain or temperature and intermittent paresthesia without precipitating factors.

• #3 Nail patella syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/nail-patella-syndrome

  Nail patella syndrome is a rare genetic condition that can cause problems with the nails, bones and kidneys. […] Almost everyone with nail patella syndrome has abnormal nails. Many people also have problems with their knee caps (patellae), elbows and pelvis. […] Some of the problems will be obvious from birth. But others may not become clear until later on. […] There are several symptoms and problems associated with nail patella syndrome. […] Nails may be missing, underdeveloped, discoloured, split, ridged or pitted. […] Thumbnails are most severely affected, with each fingernail being less severely affected from the index finger to the little finger. […] Toenails are usually less affected by the condition. […] The kneecaps may be missing, small, irregularly shaped and easily dislocated, and can click, lock or may feel unstable or painful.

• #3 Nail patella syndrome | nidirect

  https://www.nidirect.gov.uk/conditions/nail-patella-syndrome

  Some people aren’t able to fully extend their arms or turn their palms up while keeping their elbows straight. The elbows may also angle outwards, and dislocations can occur. […] There may be protein in the urine (an early sign of kidney problems), which can be accompanied by blood in the urine. This can sometimes progress to kidney disease. […] People with nail patella syndrome may also have increased pressure in the eyes (glaucoma) at an early age, numbness, tingling or a burning sensation in the hands and feet, poor blood circulation in the hands and feet, constipation or irritable bowel syndrome (IBS), difficulty putting on weight, particularly muscle, thin bones (osteoporosis), particularly in the hips, and a high forehead and hairline. […] There’s no cure for nail patella syndrome. But treatments are available to help manage the symptoms.

• #3 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  Nail-patella syndrome is a condition where patients experience reduced muscle mass in their upper and lower body, making it look like there’s a muscular disorder. The main features of this syndrome are changes in the nails and kneecaps. Approximately 98% of patients show different types of nail disorders, including missing, underdeveloped, or damaged fingernails. The toenails are affected to a lesser extent. Interestingly, the fingernails on the side of the little finger are often more affected. One of the signs that doctors look for is a swan-neck deformity, where the fingers are hyperextended at certain joints and flexed at others. Another sign is reduced skin creases over certain finger joints, which is quite typical of this syndrome. […] Like the nails, the kneecaps of these patients may also be missing, underdeveloped, or irregularly shaped. These kneecaps are often dislocated, although they sometimes are naturally off to one side. Abnormal developments in the lower section of the femur and the primary muscles controlling knee movements can also be observed. Patients may have a limited range of movement in the elbow joints in extension, rotation, and supination techniques. Skin contraction and thin, web-like membranes at the elbow joint are common. Interestingly, they may have symmetrical bone growths on the wide upper end of their hip bones. About 70% of patients with this syndrome have these bone outgrowths, which are characteristic of this condition. These outgrowths are an extension of the tissue that makes up the inner part of the bone, at the level where a muscle (gluteus medius) originates. An intriguing aspect of this syndrome is that although the bone density in the hip and spine area is minimally reduced, patients tend to have a higher risk of fractures in the long bones. The reason for this isn’t well-understood.

• #3 Genetics of Nail-Patella Syndrome Clinical Presentation: History, Causes, Physical Examination

  https://emedicine.medscape.com/article/947391-clinical

  Pes planus is seen in majority of patients with nail-patella syndrome. These patients also tend to have an overall typically thin body habitus, and they have difficulty gaining weight. […] Renal disease: Proteinuria with or without hematuria may be present in 30-50% of patients. This progresses to end-stage renal disease in approximately 5%. No evidence suggests that renal transplantation has different outcome in patients with nail-patella syndrome than in the general population. […] Open-angle glaucoma: Optic nerve and visual field damage can be prevented with early detection of elevated intraocular pressure and appropriate treatment.

• #3 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  The most dangerous complications of Nail-Patella Syndrome (NPS) are a type of eye disease called acute open-angle glaucoma and kidney failure. Around 17% of people over 40 with NPS have been found to have glaucoma, but luckily with early detection, it can usually be treated or even prevented. […] The scariest thing about NPS, though, is that it can lead to kidney failure, which can often result in death. The progression to kidney failure in Nail-Patella Syndrome can happen very quickly or may take several years, and we don’t fully understand why.

• #3 Genetics of Nail-Patella Syndrome Clinical Presentation: History, Causes, Physical Examination

  https://emedicine.medscape.com/article/947391-clinical

  Preeclampsia: This condition is more common in patients with nail-patella syndrome than in the general population. […] Neurology: Attention deficit disorder with and without hyperactivity (ADHD) may be more common in adults with nail-patella syndrome and does not exhibit the same increased male prevalence as in the general population. Major depressive symptoms may also be part of the syndrome. A significant proportion of patients exhibit decreased sensitivity to pain and temperature in the extremities. Signs and symptoms of chronic fatigue may be present due to maldevelopment of the serotonergic system. […] GI problems: Constipation and irritable bowel syndrome are more common in patients with nail-patella syndrome than in the general population. […] Nail dysplasia and patellar hypoplasia are essential findings for diagnosis of nail-patella syndrome (NPS). Other diagnostic features are hypoplasia of the radial head and iliac prominences, which are known as iliac horns. Renal complications and ophthalmologic problems can accompany NPS.

• #3 Genetics of Nail-Patella Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947391-overview

  Proteinuria with or without hematuria occurs in 30-50% of affected individuals, but progresses to end-stage renal disease in approximately 5% of patients. […] Pes planus is seen in majority of patients with nail-patella syndrome. These patients also tend to have an overall typically thin body habitus, and they have difficulty gaining weight. Other findings on physical examination may include the following: Nail/digit anomalies – Nails may be absent, hypoplastic, or dystrophic; triangular lunulae may be the sole nail anomaly; decreased creases over the distal interphalangeal (DIP) joints are noted. Patellar anomalies – Patellae may be absent or hypoplastic; dislocation in the superior and lateral direction is common; pain is also common, and osteoarthritis may be present. Iliac horns – These bony prominences are typically asymptomatic and may be palpable on the posterolateral iliac bones. Elbow anomalies – Decreased flexion, supination, and pronation are noted; the radius may be hypoplastic and posteriorly placed; skin webbing (pterygia) may be present. Renal disease – Proteinuria with or without hematuria may be present in 30-50% of patients; this progresses to end-stage renal disease in approximately 5%. Open-angle glaucoma. Lester sign – A hyperpigmented, irregular ring in the iris may be noted. […] Prognosis is determined by the associated abnormalities, mainly nephropathy. The incidence of nephropathy in nail-patella syndrome is reported to be approximately 40% among patients with various degrees of dysfunction. Of these patients, 10% die of renal insufficiency.

• #3 Nail–patella syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Nail%E2%80%93patella_syndrome

  Nailpatella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips. The skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who with nailpatella syndrome: Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%. In instances in which the patellae are smaller or luxated, the knees may be unstable. The elbows may have limited motion (e.g., limited pronation, supination, extension). Subluxation of the radial head may occur. Arthrodysplasia of the elbows is reported in approximately 90% of patients. General hyperextension of the joints can be present. Exostoses arising from the posterior aspect of the iliac bones („iliac horns”) are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. Other reported bone changes include scoliosis, scapular hypoplasia, and the presence of cervical ribs. Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). Side effects may include frequent headaches, blurred vision, or total vision loss. This occurs gradually over time and symptoms may not be evident in children. Kidney issues may arise such as deposition of protein in the urine and nephritis. Proteinuria is usually the first sign of kidney involvement. It can reveal itself either rapidly or years after having asymptomatic deposition of protein in the urine, kidney failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear.

• #3 Frequently Asked Questions

  http://www.npsw.org/index.php/faq

  Recent evidence suggests that open angle glaucoma is also part of NPS. Open angle Glaucoma is a condition caused by progressive blockage of the outflow of fluid from the front chamber of the eyes which can result in elevated intraocular pressure leading to narrowing of the visual field (tunnel vision) and eventually blindness if left untreated. Other ocular abnormalities occasionally associated with NPS include Keratoconus, Microcornea, Microphakia, cataracts and Ptosis.

• #3 Nail patella syndrome

  https://www.oatext.com/nail-patella-syndrome.php

  Due to the patient’s advanced kidney disease, a biopsy was not performed. Normochromic normocytic anemia, metabolic acidosis, hyperkalemia and hyperphosphatemia were all clear signs of ESRD due to NPS in our patient. […] Kidney failure may appear to happen rapidly or after many years of asymptomatic proteinuria. For patients with stage V of CKD as a result of NPS, renal transplantation has resulted favorably. […] Genetic counseling, when available, should be offered to all patients with NPS.

• #3 Orphanet: Nail-patella syndrome

  https://www.orpha.net/en/disease/detail/2614

  The management and treatment is focused on the clinical manifestations, which may require a multidisciplinary team. […] Early ocular and renal screening may be helpful and a medical follow up can be required if any alteration is identified. […] Patients with NPS live a normal lifespan. The renal pathology is a major determinant of the prognosis, as proteinuria, hypertension, and hematuria occur in 30 – 60% of the patients; 5 % progress to chronic renal failure.

• #3 Consecutive successful pregnancies of a patient with nail-patella syndrome

  https://www.degruyterbrill.com/document/doi/10.1515/crpm-2018-0016/html?srsltid=AfmBOoodOpVYJGaDH0paP97yqvP9xeFVZzHvSwHohF83BrdF8EeSEoMN

  In conclusion, despite the evident risk of preeclampsia in pregnancy, patients with nail-patella syndrome may have good obstetric outcomes with regular and strict follow-up performed at a tertiary center. The most important predictors seem to be normal renal function and the absence of marked proteinuria during the pregestational period.

• #4 SciELO Brazil – Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding* Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding*

  https://www.scielo.br/j/abd/a/vHQNkSMVTD49WxBJ86vJR4G/

  The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic. A pathognomonic finding is the presence of the triangular lunula. The diagnosis of nail-patella syndrome is based on clinical findings. […] At physical examination, anomalies in the patella correspond to hypoplasia or aplasia in more than 90% of cases, and it is possible to identify dystrophic fingernails or triangular lunula, and the feet are rarely affected. NPS includes vasomotor manifestations, such as cold sensation despite high temperatures. Neurologic manifestations are reported by 25% of the patients, such as decreased sensitivity to pain or temperature and intermittent paresthesia without precipitating factors.

• #4 Nail-Patella Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/nail-patella-syndrome/

  Nail-patella syndrome is a condition where patients experience reduced muscle mass in their upper and lower body, making it look like there’s a muscular disorder. The main features of this syndrome are changes in the nails and kneecaps. Approximately 98% of patients show different types of nail disorders, including missing, underdeveloped, or damaged fingernails. The toenails are affected to a lesser extent. Interestingly, the fingernails on the side of the little finger are often more affected. One of the signs that doctors look for is a swan-neck deformity, where the fingers are hyperextended at certain joints and flexed at others. Another sign is reduced skin creases over certain finger joints, which is quite typical of this syndrome. […] Like the nails, the kneecaps of these patients may also be missing, underdeveloped, or irregularly shaped. These kneecaps are often dislocated, although they sometimes are naturally off to one side. Abnormal developments in the lower section of the femur and the primary muscles controlling knee movements can also be observed. Patients may have a limited range of movement in the elbow joints in extension, rotation, and supination techniques. Skin contraction and thin, web-like membranes at the elbow joint are common. Interestingly, they may have symmetrical bone growths on the wide upper end of their hip bones. About 70% of patients with this syndrome have these bone outgrowths, which are characteristic of this condition. These outgrowths are an extension of the tissue that makes up the inner part of the bone, at the level where a muscle (gluteus medius) originates. An intriguing aspect of this syndrome is that although the bone density in the hip and spine area is minimally reduced, patients tend to have a higher risk of fractures in the long bones. The reason for this isn’t well-understood.

• #4 A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins | Human Genome Variation

  https://www.nature.com/articles/s41439-024-00266-z

  The affected mother (III-3) delivered monochorionic diamniotic (MD) monozygotic twins (IV-1 and IV-2) at 36 weeks and 4 days of gestation by cesarean section. […] The affected twins had the same symptoms, such as triangular deformities of the nails and clubfoot, that led to a diagnosis of NPS despite the abundant variation generally reported among NPS patients. […] In the present case, considering that the affected twins were MD monozygotic, we were concerned about similar development of kidney involvement. To follow up for their kidney-related issues, they were scheduled for regular outpatient consultation at our pediatric nephrology department in infancy. NPS with kidney involvement has various characteristic patterns, such as proteinuria, hematuria, and end-stage kidney failure. […] NPS patients require regular follow-up consultations at a nephrology department to track renal function in infancy or early childhood. It has been suggested that screening for nephropathy should be performed annually, including measurements of spot urine protein/creatinine or the albumin/creatinine ratio. […] The affected mother was shown to have proteinuria as a result of the progression of kidney disease, with which p.Ser242del can be associated, considering its location within the variant hotspot in the LMX1B homeodomain.

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