Hydrolethalus syndrome
Overview
A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
Symptoms
* Severe prenatal hydrocephalus * Absent corpus callosum * Absent septum pellucidum * Abnormal gyrations * Cleft in base of skull
Diagnosis
The findings of massive hydrocephalus, encephalocele, micrognathia, polydactyly (in particular, a duplicated big toe), syndactyly, cardiac malformation, clubfeet and polyhydramnios is very suggestive of the diagnosis. Other findings include cleft lip/palate, lung hypoplasia, and endocardial cushion defects. Especially in families where there has been a previously affected fetus, ultrasound diagnosis can be made in the 11th week of gestation.