XK aprosencephaly

Other Names

Garcia-Lurie syndrome; Aprosencephaly-atelencephaly syndrome; Aprosencephaly syndrome; XK syndrome; XK-aprosencephaly syndrome See Less

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.

Symptoms

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

Anencephaly Aprosencephaly Autosomal recessive inheritance Hand oligodactyly

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 trisomy 13, a disorder which also has a correlation with holoprosencephaly.

Diagnosis

The diagnosis of aprosencephaly is made clinically with the use of skeletal imaging, brain imaging, and autopsy.

Miscarriage

Almost all fetuses with aprosencephaly naturally miscarry before the third trimester.

NIH genetic and rare disease info

• NIH info on XK aprosencephaly

XK aprosencephaly is a rare disease.

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