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MMEP syndrome

Disease 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 (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.

ORPHA:3434

Classification level: Disorder
  • Synonym(s):
    • MCOPS8
    • Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
    • Syndromic microphthalmia type 8
    • Viljoen-Smart syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 601349
  • UMLS: C1832440
  • MeSH: -
  • GARD: 3693
  • MedDRA: -

Detailed information

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