XK aprosencephaly: Difference between revisions
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{{Infobox medical condition | |||
| name = XK aprosencephaly | |||
| synonyms = | |||
| field = [[Neurology]], [[Genetics]] | |||
| symptoms = [[Holoprosencephaly]], [[Microcephaly]], [[Seizures]], [[Developmental delay]] | |||
| complications = | |||
| onset = [[Congenital]] | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[MRI]] | |||
| differential = [[Other forms of holoprosencephaly]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[Seizure management]] | |||
| medication = [[Anticonvulsants]] | |||
| prognosis = | |||
| frequency = | |||
| deaths = | |||
}} | |||
==Other Names== | ==Other Names== | ||
Garcia-Lurie syndrome; Aprosencephaly-atelencephaly syndrome; Aprosencephaly syndrome; XK syndrome; XK-aprosencephaly syndrome See Less | Garcia-Lurie syndrome; Aprosencephaly-atelencephaly syndrome; Aprosencephaly syndrome; XK syndrome; XK-aprosencephaly syndrome See Less | ||
==Definition== | ==Definition== | ||
XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by absence of forebrain or aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. | XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by absence of forebrain or aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. | ||
==Symptoms== | ==Symptoms== | ||
'''80%-99% of people have these symptoms''' | '''80%-99% of people have these symptoms''' | ||
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Microphthalmia | Microphthalmia | ||
Narrow mouth | Narrow mouth | ||
'''30%-79% of people have these symptoms''' | '''30%-79% of people have these symptoms''' | ||
Abnormal external genitalia | Abnormal external genitalia | ||
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Abnormality of the pharynx | Abnormality of the pharynx | ||
Anal atresia | Anal atresia | ||
'''5%-29% of people have these symptoms''' | '''5%-29% of people have these symptoms''' | ||
Atrial septal defect | Atrial septal defect | ||
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Polyhydramnios | Polyhydramnios | ||
Ventricular septal defect | Ventricular septal defect | ||
==Less frequent symptoms== | ==Less frequent symptoms== | ||
Anencephaly | Anencephaly | ||
Aprosencephaly | Aprosencephaly | ||
Autosomal | Autosomal recessive inheritance | ||
Hand oligodactyly | Hand oligodactyly | ||
== Causes == | == Causes == | ||
No single cause is responsible for aprosencephaly. In 2005, it was found that [[autosomal recessive]] mutations of the [[SIX3]] gene located on the short arm of [[chromosome 2]] could result in aprosencephaly. Some cases were linked to [[Patau syndrome|trisomy 13]], a disorder which also has a correlation with holoprosencephaly. | No single cause is responsible for aprosencephaly. In 2005, it was found that [[autosomal recessive]] mutations of the [[SIX3]] gene located on the short arm of [[chromosome 2]] could result in aprosencephaly. Some cases were linked to [[Patau syndrome|trisomy 13]], a disorder which also has a correlation with holoprosencephaly. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of aprosencephaly is made clinically with the use of skeletal imaging, brain imaging, and [[autopsy]]. | The diagnosis of aprosencephaly is made clinically with the use of skeletal imaging, brain imaging, and [[autopsy]]. | ||
==Miscarriage== | ==Miscarriage== | ||
Almost all fetuses with aprosencephaly naturally miscarry before the third trimester. | Almost all fetuses with aprosencephaly naturally miscarry before the third trimester. | ||
Latest revision as of 03:17, 4 April 2025
| XK aprosencephaly | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Holoprosencephaly, Microcephaly, Seizures, Developmental delay |
| Complications | |
| Onset | Congenital |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, MRI |
| Differential diagnosis | Other forms of holoprosencephaly |
| Prevention | |
| Treatment | Supportive care, Seizure management |
| Medication | Anticonvulsants |
| Prognosis | |
| Frequency | |
| Deaths | |
Other Names[edit]
Garcia-Lurie syndrome; Aprosencephaly-atelencephaly syndrome; Aprosencephaly syndrome; XK syndrome; XK-aprosencephaly syndrome See Less
Definition[edit]
XK aprosencephaly syndrome is a very rare syndromic type of cerebral malformation characterized by absence of forebrain or aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.
Symptoms[edit]
80%-99% of people have these symptoms Microcephaly Microphthalmia Narrow mouth 30%-79% of people have these symptoms Abnormal external genitalia Abnormal morphology of the radius Abnormality of the nares Abnormality of the pharynx Anal atresia 5%-29% of people have these symptoms Atrial septal defect Hypotelorism Polyhydramnios Ventricular septal defect
Less frequent symptoms[edit]
Anencephaly Aprosencephaly Autosomal recessive inheritance Hand oligodactyly
Causes[edit]
No single cause is responsible for aprosencephaly. In 2005, it was found that autosomal recessive mutations of the SIX3 gene located on the short arm of chromosome 2 could result in aprosencephaly. Some cases were linked to trisomy 13, a disorder which also has a correlation with holoprosencephaly.
Diagnosis[edit]
The diagnosis of aprosencephaly is made clinically with the use of skeletal imaging, brain imaging, and autopsy.
Miscarriage[edit]
Almost all fetuses with aprosencephaly naturally miscarry before the third trimester.
NIH genetic and rare disease info[edit]
XK aprosencephaly is a rare disease.
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Rare diseases - XK aprosencephaly
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