Materiały źródłowe

• #1 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata. […] Patau syndrome is diagnosed either prenatally or at birth. […] Multiple large studies have detailed the poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year. […] Even in these cases of increased survival, severe disability remains the expectation of these patients. […] Patients surviving past infancy have a severe psychomotor disorder, failure to thrive, intellectual disability, and seizures. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients.

• #2 Patau Syndrome (Trisomy 13) Symptoms and Diagnosis

  https://www.verywellhealth.com/patau-syndrome-trisomy-13-2860981

  Newborns born with Patau syndrome often have physical abnormalities or intellectual issues. Many babies do not survive past the first month or within the first year. Other symptoms include: Extra fingers or toes (polydactyly) […] Neurological problems such as a small head (microcephaly), failure of the brain to divide into halves during gestation (holoprosencephaly), severe mental deficiency […] Heart defects (80 percent of individuals) […] Patau syndrome is not very common. The prevalence in newborns is one in 5,000; 90% of babies with it die prior to birth.

• #3 Patau Syndrome: Symptoms, Causes, Treatment | DW

  https://www.disabled-world.com/disability/types/patau-syndrome.php

  Patau syndrome occurs in approximately one out of every ten thousand to sixteen thousand infants. […] Due to numerous life-threatening medical issues, many babies with Patau syndrome die in the first few days or weeks of their lives. Five to ten percent of children with Patau syndrome live past their first year. […] Babies born with Patau syndrome present a recognizable pattern of physical features, often permitting medical professionals to diagnose the syndrome. Physical congenital disabilities that are notable and, at times, anatomical changes to the baby’s internal organs are present. […] People affected by Patau syndrome many times have heart defects, small or poorly developed eyes, spinal cord or brain abnormalities, cleft lip or palate, extra toes or fingers, and decreased muscle tone.

• #4 Patau Syndrome: Symptoms, Causes, Treatment | DW

  https://www.disabled-world.com/disability/types/patau-syndrome.php

  Patau syndrome occurs in approximately one out of every ten thousand to sixteen thousand infants. […] Due to numerous life-threatening medical issues, many babies with Patau syndrome die in the first few days or weeks of their lives. Five to ten percent of children with Patau syndrome live past their first year. […] Babies born with Patau syndrome present a recognizable pattern of physical features, often permitting medical professionals to diagnose the syndrome. Physical congenital disabilities that are notable and, at times, anatomical changes to the baby’s internal organs are present. […] People affected by Patau syndrome many times have heart defects, small or poorly developed eyes, spinal cord or brain abnormalities, cleft lip or palate, extra toes or fingers, and decreased muscle tone.

• #5 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1. […] Symptoms of trisomy 13 can be life-threatening and the condition poses a risk of miscarriage or death before the child turns 1 year old. […] Symptoms of trisomy 13 affect several different parts of the body and range in severity for each person diagnosed with the condition. Symptoms of trisomy 13 include: Heart abnormalities present at birth (congenital). Physical growth irregularities with many cases targeting the spinal cord. Severe issues with cognitive function. Underdeveloped internal organs. […] Physical symptoms of trisomy 13 include: Cleft lip or cleft palate. Difficulty gaining weight. Extra fingers or toes (polydactyly). Ears forming low on the head. Growth abnormalities in the arms and legs. Low muscle tone (hypotonia). Small head and lower jaw. Very small, close together or underdeveloped eyes.

• #6 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome, or trisomy 13, is a life-limiting genetic condition in which there is an extra copy of chromosome 13 in all or some cells. Survival rates are low, and those babies born alive with Patau syndrome will have learning disabilities and a wide range of serious health challenges. […] Some of the signs and symptoms of Patau syndrome are listed below. Low birth weight and/or slow growth. Craniofacial features: scalp anomalies, such as missing skin; sloping forehead; close-set eyes; short, flat or atypically shaped nose; cleft palate and/or lip; small jaw; and ears may be small, low set, posteriorly rotated and malformed. Limb anomalies: clenched hands; single palmar crease; extra fingers and toes (polydactyly); nail hypoplasia; smooth, curved sole of the foot with prominent heel; and club feet. Cardiac anomalies (found in 80% of cases): septal anomalies; tetralogy of Fallot; and double outlet right ventricle. Respiratory symptoms: breathing difficulties, including apnoeas. Neurological symptoms: microcephaly; hypotonia and feeding difficulties; seizures; severe developmental delay; alobar holoprosencephaly; and spinal anomalies. Ophthalmological symptoms: cataracts; retinal dysplasia or detachment; nystagmus; optic nerve hypoplasia; small or absent eyes; and coloboma of the iris. Gastroenterological symptoms: omphalocele; umbilical hernia; malrotation; and Meckel diverticulum. Genital anomalies: undescended testicles; hypospadias; hypertrophy of the clitoris; labia minora hypoplasia; and bicornuate uterus. Renal symptoms: polycystic kidney; hydronephrosis; and horseshoe kidney. Other: hearing loss; and capillary haemangioma.

• #7 Trisomy 13: Symptoms, Diagnosis, Treatment

  https://www.webmd.com/children/trisomy-13

  The symptoms of trisomy 13 affect many body systems and parts. The more cells in your baby’s body that have the extra chromosome, the more serious their symptoms will be. […] Babies born with trisomy 13 tend to have a low birth weight and brain structure problems, which affect their facial development. About 80% of babies born with trisomy 13 have heart problems. Cleft lip or palate is also common. […] Other physical symptoms include: Eyes that are set close together, A nose or nostrils that aren’t fully developed, Clenched hands, Small eyes, head, or lower jaw, Low-set ears, Extra toes or fingers, Low muscle tone, Missing skin on the scalp, Hernias, A hole or split in the iris of the eye, Palms with one crease instead of the usual three, Undescended testicle, An abnormal skeleton.

• #8 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  Babies with Patau’s syndrome grow slowly in the womb and have a low birth weight, along with a number of other serious medical problems. […] Babies with Patau’s syndrome can have a wide range of health problems. […] Their growth in the womb is often restricted, resulting in a low birth weight, and 8 out of 10 will be born with severe heart defects. […] The brain often does not divide into 2 halves. This is known as holoprosencephaly. […] When this happens, it can affect facial features and cause defects such as cleft lip and palate, an abnormally small eye or eyes (microphthalmia), absence of 1 or both eyes (anophthalmia). […] Other abnormalities of the face and head include smaller than normal head size (microcephaly), ear malformations and deafness. […] Patau’s syndrome can also cause other problems, such as an abdominal wall defect where the abdomen does not develop fully in the womb, resulting in the intestines being outside the body, covered only by a membrane this is known as an exomphalos or omphalocoele, abnormal cysts in the kidneys.

• #9 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom feet. […] For the small number of babies with Patau’s syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs.

• #10 Patau syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Patau_syndrome

  Of those fetuses that do survive to gestation and birth, common abnormalities may include: […] Intellectual disability and motor disorder […] Approximately 90% of infants with Patau syndrome die within the first year of life. […] Those children who do survive past 1 year of life are typically severely disabled with intellectual disability, seizures, and psychomotor issues. […] Children with the mosaic variation are usually affected to a lesser extent.

• #11 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata. […] Patau syndrome is diagnosed either prenatally or at birth. […] Multiple large studies have detailed the poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year. […] Even in these cases of increased survival, severe disability remains the expectation of these patients. […] Patients surviving past infancy have a severe psychomotor disorder, failure to thrive, intellectual disability, and seizures. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients.

• #12 Trisomy 13 Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/trisomy-13

  Symptoms include: […] Intellectual disability, severe […] More than 90% of children with trisomy 13 die in the first year. […] Complications begin almost immediately. Most infants with trisomy 13 have congenital heart disease. […] Complications may include: […] Seizures.

• #13 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Many of the clinical features widely vary; however, severe mental deficiency is a consistent feature in children born with Patau syndrome. Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neural tube defects, and heart defects are also frequent clinical features. Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance. […] Median survival age for children with Patau syndrome is 2.5 days, with only one in 20 children surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected based on reports from those who die in the perinatal period. […] Holoprosencephaly, a frequent brain malformation associated with Patau syndrome, is associated with severe neurological impairment; development of the structural features of the midface is disrupted when holoprosencephaly is present. Serious cardiac anomalies are often present. […] Children who survive the neonatal period continue to express developmental delays and exhibit a declining developmental quotient over time. This decline does not result from loss of developmental milestones but instead reflects a worsening developmental lag compared with other children.

• #14 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1. […] Symptoms of trisomy 13 can be life-threatening and the condition poses a risk of miscarriage or death before the child turns 1 year old. […] Symptoms of trisomy 13 affect several different parts of the body and range in severity for each person diagnosed with the condition. Symptoms of trisomy 13 include: Heart abnormalities present at birth (congenital). Physical growth irregularities with many cases targeting the spinal cord. Severe issues with cognitive function. Underdeveloped internal organs. […] Physical symptoms of trisomy 13 include: Cleft lip or cleft palate. Difficulty gaining weight. Extra fingers or toes (polydactyly). Ears forming low on the head. Growth abnormalities in the arms and legs. Low muscle tone (hypotonia). Small head and lower jaw. Very small, close together or underdeveloped eyes.

• #15 Patau’s syndrome

  https://www.nhs.uk/conditions/pataus-syndrome/

  There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom feet. […] For the small number of babies with Patau’s syndrome who survive beyond the first few days of life, their care will depend on their specific symptoms and needs.

• #16 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome, or trisomy 13, is a life-limiting genetic condition in which there is an extra copy of chromosome 13 in all or some cells. Survival rates are low, and those babies born alive with Patau syndrome will have learning disabilities and a wide range of serious health challenges. […] Some of the signs and symptoms of Patau syndrome are listed below. Low birth weight and/or slow growth. Craniofacial features: scalp anomalies, such as missing skin; sloping forehead; close-set eyes; short, flat or atypically shaped nose; cleft palate and/or lip; small jaw; and ears may be small, low set, posteriorly rotated and malformed. Limb anomalies: clenched hands; single palmar crease; extra fingers and toes (polydactyly); nail hypoplasia; smooth, curved sole of the foot with prominent heel; and club feet. Cardiac anomalies (found in 80% of cases): septal anomalies; tetralogy of Fallot; and double outlet right ventricle. Respiratory symptoms: breathing difficulties, including apnoeas. Neurological symptoms: microcephaly; hypotonia and feeding difficulties; seizures; severe developmental delay; alobar holoprosencephaly; and spinal anomalies. Ophthalmological symptoms: cataracts; retinal dysplasia or detachment; nystagmus; optic nerve hypoplasia; small or absent eyes; and coloboma of the iris. Gastroenterological symptoms: omphalocele; umbilical hernia; malrotation; and Meckel diverticulum. Genital anomalies: undescended testicles; hypospadias; hypertrophy of the clitoris; labia minora hypoplasia; and bicornuate uterus. Renal symptoms: polycystic kidney; hydronephrosis; and horseshoe kidney. Other: hearing loss; and capillary haemangioma.

• #17 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1. […] Symptoms of trisomy 13 can be life-threatening and the condition poses a risk of miscarriage or death before the child turns 1 year old. […] Symptoms of trisomy 13 affect several different parts of the body and range in severity for each person diagnosed with the condition. Symptoms of trisomy 13 include: Heart abnormalities present at birth (congenital). Physical growth irregularities with many cases targeting the spinal cord. Severe issues with cognitive function. Underdeveloped internal organs. […] Physical symptoms of trisomy 13 include: Cleft lip or cleft palate. Difficulty gaining weight. Extra fingers or toes (polydactyly). Ears forming low on the head. Growth abnormalities in the arms and legs. Low muscle tone (hypotonia). Small head and lower jaw. Very small, close together or underdeveloped eyes.

• #18 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Symptoms of trisomy 13 that affect the development of internal organs include: Gastrointestinal (GI) problems that make eating difficult. Heart failure. Hearing problems. Underdeveloped lungs. Vision problems. […] Since internal organ symptoms can be life-threatening, nearly 80% of babies diagnosed with Trisomy 13 don’t survive past their first year. Those that do survive may face more life-threatening complications after their first year including an increased risk of developing cancer and seizures. […] The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. It’s common for parents to miscarry during the first trimester if their baby has trisomy 13. Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.

• #19 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome, or trisomy 13, is a life-limiting genetic condition in which there is an extra copy of chromosome 13 in all or some cells. Survival rates are low, and those babies born alive with Patau syndrome will have learning disabilities and a wide range of serious health challenges. […] Some of the signs and symptoms of Patau syndrome are listed below. Low birth weight and/or slow growth. Craniofacial features: scalp anomalies, such as missing skin; sloping forehead; close-set eyes; short, flat or atypically shaped nose; cleft palate and/or lip; small jaw; and ears may be small, low set, posteriorly rotated and malformed. Limb anomalies: clenched hands; single palmar crease; extra fingers and toes (polydactyly); nail hypoplasia; smooth, curved sole of the foot with prominent heel; and club feet. Cardiac anomalies (found in 80% of cases): septal anomalies; tetralogy of Fallot; and double outlet right ventricle. Respiratory symptoms: breathing difficulties, including apnoeas. Neurological symptoms: microcephaly; hypotonia and feeding difficulties; seizures; severe developmental delay; alobar holoprosencephaly; and spinal anomalies. Ophthalmological symptoms: cataracts; retinal dysplasia or detachment; nystagmus; optic nerve hypoplasia; small or absent eyes; and coloboma of the iris. Gastroenterological symptoms: omphalocele; umbilical hernia; malrotation; and Meckel diverticulum. Genital anomalies: undescended testicles; hypospadias; hypertrophy of the clitoris; labia minora hypoplasia; and bicornuate uterus. Renal symptoms: polycystic kidney; hydronephrosis; and horseshoe kidney. Other: hearing loss; and capillary haemangioma.

• #20 Patau Syndrome – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/patau-syndrome/

  Patau syndrome is a condition that primarily affects newborns and has a myriad of symptoms affecting various parts of the body. These infants usually have poor growth within the womb and small head size. They often have facial defects, abnormal facial features, and issues with the central nervous system. Common facial abnormalities include eyes that are too close together, a divided lip or palate, a sloping forehead, small and formed improperly ears, micrognathia (a condition in which the jaw is undersized), and extra bits of skin in front of the ears. The most common brain abnormality is lobar holoprosencephaly, which occurs when the brain doesn’t divide properly into its right and left halves. […] This syndrome also affects the limbs, causing extra digits on the hands or feet, clubfoot, or a condition known as rocker-bottom feet that affects the shape of the feet. The syndrome can cause heart defects including holes in the wall separating the heart chambers, tetralogy of Fallot (a combination of four heart defects), and a double outlet right ventricle (two of the main blood vessels leaving the heart arise from the same chamber).

• #21 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Symptoms of trisomy 13 that affect the development of internal organs include: Gastrointestinal (GI) problems that make eating difficult. Heart failure. Hearing problems. Underdeveloped lungs. Vision problems. […] Since internal organ symptoms can be life-threatening, nearly 80% of babies diagnosed with Trisomy 13 don’t survive past their first year. Those that do survive may face more life-threatening complications after their first year including an increased risk of developing cancer and seizures. […] The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. It’s common for parents to miscarry during the first trimester if their baby has trisomy 13. Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.

• #22 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Pataus-Syndrome.aspx

  Pataus Syndrome is also known as Trisomy 13. The chances of survival of a baby with Pataus syndrome are minimal. Around 90% of babies born with Trisomy 13 will not survive beyond their first birthday. Many are born with such severe medical conditions that they die within a week after being born. The 10% of babies born with a less severe form of Pataus Syndrome may live longer but will be afflicted with a range of health issues. […] Due to the presence of the extra chromosome 13 in the bodys cells, the proper development of the baby is impossible. Some possible symptoms of a baby born with this genetic disorder include: Congenital heart defects, Brain and spinal cord abnormalities, Microcephaly or head size is smaller than normal, Micrognathia or smaller lower jaw size than normal, Cutis Aplasia or missing skin on the scalp, Deformation of ears accompanied with deafness, Microphthalmia or poorly developed eyes, Anophthalmia or absence of one or both eyes, Coloboma or hole, split or cleft in the iris, Polydactyly or extra toes or fingers may be present, Nasal passages may not be properly developed, Cleft lip or an opening in the lip, Cleft palate of an opening in the roof of the mouth, Hypotonia or weak muscle tone, Rounded bottom to the feet also known as rocker-bottom feet, Capillary Haemangiomas or raised red birthmarks, Exomphalos or intestines found outside the body in a sac of membrane, Hernias such as umbilical hernia or inguinal hernia, Cysts in the Kidneys, Intellectual disability, Skeletal abnormalities in the limbs. Not all babies born with Pataus syndrome will display all these symptoms. However, they will have many of the symptoms mentioned in the list leading to medical health issues.

• #23 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Patau syndrome, or trisomy 13, is a life-limiting genetic condition in which there is an extra copy of chromosome 13 in all or some cells. Survival rates are low, and those babies born alive with Patau syndrome will have learning disabilities and a wide range of serious health challenges. […] Some of the signs and symptoms of Patau syndrome are listed below. Low birth weight and/or slow growth. Craniofacial features: scalp anomalies, such as missing skin; sloping forehead; close-set eyes; short, flat or atypically shaped nose; cleft palate and/or lip; small jaw; and ears may be small, low set, posteriorly rotated and malformed. Limb anomalies: clenched hands; single palmar crease; extra fingers and toes (polydactyly); nail hypoplasia; smooth, curved sole of the foot with prominent heel; and club feet. Cardiac anomalies (found in 80% of cases): septal anomalies; tetralogy of Fallot; and double outlet right ventricle. Respiratory symptoms: breathing difficulties, including apnoeas. Neurological symptoms: microcephaly; hypotonia and feeding difficulties; seizures; severe developmental delay; alobar holoprosencephaly; and spinal anomalies. Ophthalmological symptoms: cataracts; retinal dysplasia or detachment; nystagmus; optic nerve hypoplasia; small or absent eyes; and coloboma of the iris. Gastroenterological symptoms: omphalocele; umbilical hernia; malrotation; and Meckel diverticulum. Genital anomalies: undescended testicles; hypospadias; hypertrophy of the clitoris; labia minora hypoplasia; and bicornuate uterus. Renal symptoms: polycystic kidney; hydronephrosis; and horseshoe kidney. Other: hearing loss; and capillary haemangioma.

• #24 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Symptoms of trisomy 13 that affect the development of internal organs include: Gastrointestinal (GI) problems that make eating difficult. Heart failure. Hearing problems. Underdeveloped lungs. Vision problems. […] Since internal organ symptoms can be life-threatening, nearly 80% of babies diagnosed with Trisomy 13 don’t survive past their first year. Those that do survive may face more life-threatening complications after their first year including an increased risk of developing cancer and seizures. […] The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. It’s common for parents to miscarry during the first trimester if their baby has trisomy 13. Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.

• #25 Patau syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/patau-syndrome?lang=us

  Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. […] Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome live more than a few days after birth. […] The syndrome carries a poor prognosis, with most cases ending in fetal demise or neonatal death. Management is mainly supportive.

• #26 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata. […] Patau syndrome is diagnosed either prenatally or at birth. […] Multiple large studies have detailed the poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year. […] Even in these cases of increased survival, severe disability remains the expectation of these patients. […] Patients surviving past infancy have a severe psychomotor disorder, failure to thrive, intellectual disability, and seizures. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients.

• #27 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Ninety percent of patients with Patau syndrome do not survive until one year after birth, and many die in utero. […] The prognosis of this disorder is poor, with a median survival of 7 to 10 days without intervention. Aggressive intervention may prolong the median survival, but Patau syndrome typically has a universally poor prognosis.

• #28 Patau’s syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/

  Pataus syndrome, also known as Trisomy 13, is a rare but serious genetic condition. It begins to affect babies when theyre in the womb, and will continue to cause health problems throughout their life. […] If your baby is affected by Pataus syndrome, its likely they will have some health conditions. Exactly how your baby is affected will depend on the form of Pataus syndrome they have. […] Full form Pataus syndrome is considered to be a life-limiting condition. This means it can affect how long a baby can live. […] Around 4 in 10 (43.1%) babies with full form Pataus syndrome will live longer than 1 week. Around 1 in 10 (9.7%) will live longer than 5 years. […] Babies born with full form Pataus syndrome will have a learning disability that may be severe. Theyre also likely to have a wide range of health conditions, some of which can be serious.

• #29 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Individuals with Patau syndrome typically have a short life expectancy (more than 9 in 10 children die during their first year of life). There is a high rate of death in utero. Cardiopulmonary arrest and central apnoeas are leading causes of death in the neonatal period. Gastro-oesophageal reflux and feeding difficulties are almost universal, and aspiration can lead to decompensation. Survival time is increased for infants treated intensively. Around 1 in 10 babies with less severe forms of the syndrome, such as partial or mosaic trisomy 13, live for more than a year.

• #30 Patau’s syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/

  Most babies with a form of Pataus syndrome will have some form of learning disability. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy. […] Babies with full form Pataus syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. […] Despite their complex needs, children with Pataus syndrome can make progress with their development, although slowly.

• #31 Patau’s Syndrome – South West Fetal Network

  https://southwestfetalmedicine.co.uk/conditions/pataus-syndrome/

  There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom feet. […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.

• #32 Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook

  https://my.clevelandclinic.org/health/diseases/24647-trisomy-13-patau-syndrome

  Symptoms of trisomy 13 that affect the development of internal organs include: Gastrointestinal (GI) problems that make eating difficult. Heart failure. Hearing problems. Underdeveloped lungs. Vision problems. […] Since internal organ symptoms can be life-threatening, nearly 80% of babies diagnosed with Trisomy 13 don’t survive past their first year. Those that do survive may face more life-threatening complications after their first year including an increased risk of developing cancer and seizures. […] The prognosis (outlook) is poor for babies diagnosed with trisomy 13 because of complications during fetal development, especially targeting the baby’s brain, heart, spinal cord and lungs. It’s common for parents to miscarry during the first trimester if their baby has trisomy 13. Life expectancy is short for about 80% of babies born with trisomy 13, and many babies pass away during their first few weeks of life or before their first birthday. Only 10% of babies survive past their first year.

• #33

• #34 Trisomy 13: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-13/

  A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

• #35 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Individuals with Patau syndrome typically have a short life expectancy (more than 9 in 10 children die during their first year of life). There is a high rate of death in utero. Cardiopulmonary arrest and central apnoeas are leading causes of death in the neonatal period. Gastro-oesophageal reflux and feeding difficulties are almost universal, and aspiration can lead to decompensation. Survival time is increased for infants treated intensively. Around 1 in 10 babies with less severe forms of the syndrome, such as partial or mosaic trisomy 13, live for more than a year.

• #36

  https://step1.medbullets.com/biochemistry/422911/patau-syndrome

  Patau syndrome is an autosomal trisomy disorder of chromosome 13 characterized by severe intellectual disability and characteristic facial features, including cleft lip/palate, microcephaly, and microphthalmia. […] Symptoms include severe intellectual disability, holoprosencephaly, and cardiac anomalies. […] Holoprosencephaly is a brain malformation associated with severe neurological dysfunction where the brain does not divide into halves. […] Cardiac anomalies such as patent ductus arteriosus and septal wall defects are common. […] Many instances of Patau syndrome result in fetal demise. […] Patients die by age 1 with a median survival of 3 days. […] There are reports of children surviving into teenage years. […] The most common cause of death is cardiopulmonary arrest.

• #37 Trisomy 13 (Patau Syndrome): Causes, Symptoms, Types, Diagnosis, Treatment And Prevention

  https://www.prepladder.com/neet-pg-study-material/pathology/trisomy-13-patau-syndrome-causes-symptoms-types-diagnosis-treatment-and-prevention

  Trisomy 13 results in symptoms that affect the growth of internal organs, including: Gastrointestinal (GI) problems that make eating difficult. Cardiac failure. Hearing issues. Not fully developed lungs. Visual problems. Approximately 80% of infants with Trisomy 13 do not survive past their first year of life because of the potentially lethal nature of symptoms connected to internal organs. Those who survive beyond the first year may face more severe health problems, like an increased risk of cancer and seizures.

• #38 Trisomy 13 | Causes, Types, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/t/trisomy-13

  Trisomy 13 is a serious genetic condition. It is also sometimes called Patau syndrome. It can cause many different symptoms that are most often life-limiting. Not all babies with trisomy 13 will have the same differences or challenges. Some common things that can be caused by trisomy 13 include: […] Trisomy 13 also causes challenges after birth, such as: […] Unfortunately, trisomy 13 is often a severe condition and most babies with it do not survive to their first birthday. However, some babies with trisomy 13 have milder symptoms and can survive longer. For babies who survive longer, they usually need frequent visits to their primary care and specialist doctors. They may need frequent hospital stays, surgeries, or other medical treatments. […] All babies with trisomy 13 have developmental delays and intellectual disability; they may not learn how to do things that typical children do, such as walk and talk. Children with trisomy 13 will require special care for their entire lives.

• #39 Patau Syndrome: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/947706-overview

  Many of the clinical features widely vary; however, severe mental deficiency is a consistent feature in children born with Patau syndrome. Holoprosencephaly, polydactyly, flexion of the fingers, rocker-bottom feet, facial clefting, neural tube defects, and heart defects are also frequent clinical features. Patau syndrome is generally recognized at birth by the presence of structural birth defects and poor neurologic performance. […] Median survival age for children with Patau syndrome is 2.5 days, with only one in 20 children surviving longer than 6 months. However, some children survive into their teens and seem to fare better than might be expected based on reports from those who die in the perinatal period. […] Holoprosencephaly, a frequent brain malformation associated with Patau syndrome, is associated with severe neurological impairment; development of the structural features of the midface is disrupted when holoprosencephaly is present. Serious cardiac anomalies are often present. […] Children who survive the neonatal period continue to express developmental delays and exhibit a declining developmental quotient over time. This decline does not result from loss of developmental milestones but instead reflects a worsening developmental lag compared with other children.

• #40 Patau Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK538347/

  Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata. […] Patau syndrome is diagnosed either prenatally or at birth. […] Multiple large studies have detailed the poor prognosis of patients with Patau syndrome. Median survival is 7 to 10 days in live-born patients, and 90% live for less than 1 year. […] Even in these cases of increased survival, severe disability remains the expectation of these patients. […] Patients surviving past infancy have a severe psychomotor disorder, failure to thrive, intellectual disability, and seizures. […] Despite aggressive management, median survival only extends to 733 days in the most recent cohorts of patients.

• #41 Trisomy 13 (also known as Patau syndrome) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/trisomy13.html

  Parents of a baby with Trisomy 13 face many difficult decisions regarding the care of their child. Babies will be given comfort care, and 80% will not survive past the first month of life. Most will not live past the first week, regardless of medical intervention. Despite good caloric intake, many babies with chromosomal defects will show slow growth. […] Virtually all the 5% of children who survive past the first year will exhibit developmental and growth delays. Early intervention programs and special education will be very important to the relatively small number of children with trisomy 13 who survive the difficult early months. […] The list of possible complications is very great because so many body systems are affected with the trisomy 13 condition. Infection and difficulty feeding will be big issues in caring for these babies.

• #42 What is 13-trisomy (Pato syndrome)? What is prenatal diagnosis and what are the disadvantagesLogical problemsPercentage of patients in their early 30s | (EN)

  https://www.hiro-clinic.or.jp/nipt/patau-syndrome/?lang=en

  Patau syndrome is often associated with complications such as delayed growth and development from the fetal period, various physical characteristics, and various heart diseases. […] The symptoms of these features and diseases are different for each baby. However, among the most common are severe mental disability, facial and foot characteristics, heart disease and hearing loss, developmental delays, and apneic seizures. […] In early childhood, apneic attacks, prolonged periods of no breathing, are common. […] Patau syndrome is also associated with relatively severe intellectual disability. […] The growth and developmental characteristics of Patau syndrome include a small stature and very slow growth and development since fetal period.

• #43 Patau’s syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/

  Most babies with a form of Pataus syndrome will have some form of learning disability. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy. […] Babies with full form Pataus syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. […] Despite their complex needs, children with Pataus syndrome can make progress with their development, although slowly.

• #44

  https://www.gov.uk/government/publications/trisomy-13-description-in-brief/pataus-syndrome-information-for-parents

  Babies with Pataus syndrome have an extra copy of chromosome 13 in all or some cells. […] In many cases, Pataus syndrome is a life-limiting condition and survival rates are low. There is no way to cure this condition. […] All babies born with Pataus syndrome will have learning disabilities and a wide range of health challenges, some of which can be extremely serious. They may have problems with their: heart, respiratory system, kidneys, digestive system. […] Babies born with full Pataus syndrome can slowly make progress with their development, despite their complex needs. […] Babies born with mosaic or partial Pataus syndrome may have less serious health challenges, but it is not possible to know this before the baby is born. […] There is no cure for Pataus syndrome. Sadly, many babies with Pataus Syndrome are miscarried during pregnancy. Of those babies born alive around 11% live past their first birthday. Some babies may survive to adulthood, but this is rare.

• #45 Patau Syndrome – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/P/Patau-Syndrome.html

  Beyond one month of age, other symptoms that are seen in individuals with Patau syndrome are: feeding difficulties and constipation, reflux disease, slow growth rates, curvature of the spine (scoliosis), irritability, sensitivity to sunlight, low muscle tone, high blood pressure, sinus infections, urinary tract infections, and ear and eye infections. […] Approximately 45 percent of trisomy 13 babies die within their first month of life; up to 70 percent in the first six months; and over 70 percent by one year of age. Survival to adulthood is very rare. Only one adult is known to have survived to age 33. […] Most survivors have profound mental and physical disabilities; however, the capacity for learning in children with Patau syndrome varies from case to case. Older children may be able to walk with or without a walker. They may also be able to understand words and phrases, follow simple commands, use a few words or signs, and recognize and interact with others.

• #46 Trisomy 13: Diagnosis, Causes, Prognosis, and More

  https://www.healthline.com/health/childrens-health/trisomy-13

  Treatment for Patau syndrome is often targeted at whatever symptoms a child is experiencing. Instead of curative treatments, medical help tends to be focused on making the child comfortable, since many babies do not live long after birth. […] Children who live longer may also benefit from early intervention and special education programs as they grow. […] However, more than 90 percent of infants with trisomy 13 will not survive their first year. Most babies with this rare condition live only 7 to 10 days. […] Around 5 percent of children with trisomy 13 will live beyond the first year, though they will likely have growth and developmental delays.

• #47 Trisomy 13: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trisomy-13/

  A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only some of the body’s cells. In these people, the condition is called mosaic trisomy 13. The severity of mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

• #48 Patau’s Syndrome – South West Fetal Network

  https://southwestfetalmedicine.co.uk/conditions/pataus-syndrome/

  There may also be abnormalities of the hands and feet, such as extra fingers or toes (polydactyly) and a rounded bottom to the feet, known as rocker-bottom feet. […] The symptoms and features of both mosaicism and partial trisomy tend to be less severe than in simple trisomy 13, resulting in more babies living longer.

• #49 Patau syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Patau_syndrome

  Of those fetuses that do survive to gestation and birth, common abnormalities may include: […] Intellectual disability and motor disorder […] Approximately 90% of infants with Patau syndrome die within the first year of life. […] Those children who do survive past 1 year of life are typically severely disabled with intellectual disability, seizures, and psychomotor issues. […] Children with the mosaic variation are usually affected to a lesser extent.

• #50 Patau’s syndrome | NHS inform

  https://www.nhsinform.scot/illnesses-and-conditions/chromosomal-conditions/pataus-syndrome/

  Most babies with a form of Pataus syndrome will have some form of learning disability. […] The life expectancy for babies with mosaic or partial forms of Pataus syndrome is also very variable. Some will live long lives, while others will have a much shorter life expectancy. […] Babies with full form Pataus syndrome usually have a low birthweight and are considered medically fragile. This means they are at high risk of infections and complications that require treatment in hospital. […] Despite their complex needs, children with Pataus syndrome can make progress with their development, although slowly.

• #51 Patau syndrome (trisomy 13) — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/patau-syndrome-trisomy-13/

  Individuals with Patau syndrome typically have a short life expectancy (more than 9 in 10 children die during their first year of life). There is a high rate of death in utero. Cardiopulmonary arrest and central apnoeas are leading causes of death in the neonatal period. Gastro-oesophageal reflux and feeding difficulties are almost universal, and aspiration can lead to decompensation. Survival time is increased for infants treated intensively. Around 1 in 10 babies with less severe forms of the syndrome, such as partial or mosaic trisomy 13, live for more than a year.

• #52

  https://step2.medbullets.com/pediatrics/120565/patau-syndrome

  Patau syndrome is an autosomal trisomy disorder of chromosome 13 characterized by severe intellectual disability and characteristic facial features, including cleft lip/palate, microcephaly, and microphthalmia. […] Symptoms include severe intellectual disability, holoprosencephaly, and cardiac anomalies such as patent ductus arteriosus and septal wall defects. […] Many instances of Patau syndrome result in fetal demise. Patients die by age 1 with median survival of 3 days. There are reports of children surviving into teenage years. Most common cause of death is cardiopulmonary arrest.

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