Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). 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 (<i>SNX3</i>; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Disease data Classification Malformation syndrome Synonyms MCOPS8 Małogłowie - małoocze - ektrodaktylia kończyn dolnych - prognatyzm MCOPS8 Syndromiczne małoocze typu 8 8 Zespół Viljoena i Smarta Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome Syndromic microphthalmia type 8 Viljoen-Smart syndrome ORPHA code 3434 OMIM code 601349 ICD10 code Q87.8 ICD11 code LD21.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl