Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
Definition
This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Also known as Woods-Crouchman-Huson syndrome — per MONDO