MMEP syndrome
MMEP syndrome
Definition
A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
Also known as MCOPS8, microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, syndromic microphthalmia type 8, Viljoen-Smart syndrome — per MONDO