Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Definition
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localized to chromosome 1 and the other to chromosome 14.