Details of Disease

General Information of Disease (ID: DIS78DLS)

• Disease Name: MMEP syndrome
• Synonyms: microphthalmia syndromic 8; microcephaly microphthalmia ectrodactyly of lower limbs and prognathism; Viljoen Smart syndrome; microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism; MMEP; microphthalmia, syndromic 8; syndromic microphthalmia type 8; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; MCOPS8; Viljoen-Smart 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.
• Disease Hierarchy:
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DISR3JBJ: Syndromic microphthalmia
  DIS78DLS: MMEP syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011045
  MESH ID: C537686
  UMLS CUI: C1832440
  OMIM ID: 601349
  MedGen ID: 330469
  Orphanet ID: 3434
  SNOMED CT ID: 715533002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNX3	OTXL5W8F	Limited	Autosomal dominant	[1]

References

• [1] Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype. J Med Genet. 2002 Dec;39(12):893-9. doi: 10.1136/jmg.39.12.893.