MMEP syndrome
Findings
No curated finding names MMEP syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011045), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Mandibular prognathiaHPOHP:0000303
- Very frequent (80% to 99% of cases)
- Median cleft upper lipHPOHP:0000161
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- Orofacial cleftHPOHP:0000202
- Very frequent (80% to 99% of cases)
- Split foot
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SNX3HGNC:11174
- Limited · G2P · Autosomal dominant · 2017
Where it sits
Other names
4 names
Resolves to: MMEP syndrome
- Also called
- MCOPS8microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndromesyndromic microphthalmia type 8Viljoen-Smart syndrome