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MMEP syndrome
rareA 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.
- Identifiers
- MONDO:0011045 OMIM:601349Orphanet:3434
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic microphthalmia
- Also known as
- MCOPS8 · microcephaly microphthalmia ectrodactyly of lower limbs and prognathism · microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome · microphthalmia syndromic 8 · microphthalmia, syndromic 8
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