Diseases title

Pachygyria - epilepsy - intellectual deficit - dysmorphism )

Sequencing2
Orpha Number: 94084
Synonym(s):
Cerebro-oculo-facial-lymphatic syndrome, Fryns-Aftimos syndrome

This syndrome is characterised by the association of pachygyria, epilepsy, intellectual deficit and facial dysmorphism. So far, 10 patients have been described. Patients present with a facial oedema, narrowing of the frontal part of the skull, arched eyebrows, bilateral ptosis, trigonocephaly, hypertelorism with a broad nasal root and bridge, a large mouth with a fine upper lip and everted lower lip, prominent upper central incisors, posteriorly-rotated hypoplastic ears, and a highly arched palate. Complex epilepsy develops in early childhood, accompanied by a deterioration of intellectual development. Transmission appears to be X-linked.
source: Orphanet