XK aprosencephaly
Findings
No curated finding names XK aprosencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by 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.
Definition from the Mondo Disease Ontology (MONDO:0008811), read 2026-09-29. CC BY 4.0.
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- Very frequent (80% to 99% of cases)
- Abnormal external genitalia morphologyHPOHP:0000811
- Frequent (30% to 79% of cases)
- Abnormal morphology of the radiusHPOHP:0002818
- Frequent (30% to 79% of cases)
- Abnormal nostril morphologyHPOHP:0005288
- Frequent (30% to 79% of cases)
- Abnormality of the pharynx
Where it sits
- A kind of
Other names
2 names
Resolves to: XK aprosencephaly
- Also called
- Garcia-Lurie syndromeXK-aprosencephaly