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Pachygyria - epilepsy - intellectual disability - dysmorphism

Orpha number ORPHA94084
Synonym(s) Cerebro-oculo-facial-lymphatic syndrome
Fryns-Aftimos syndrome
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q04.3
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

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.


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