MMEP syndrome

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, Viljoen-Smart syndrome, microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome, syndromic microphthalmia type 8, MMEP, Viljoen Smart syndrome, microcephaly microphthalmia ectrodactyly of lower limbs and prognathism, microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism

14 clinical trials for this condition and its sub-types.