MMEP syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000161 Median cleft lip Very frequent (99-80%)
HP:0000202 Oral cleft Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000303 Mandibular prognathia Very frequent (99-80%)
HP:0000568 Microphthalmia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001839 Split foot Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000505 Visual impairment Frequent (79-30%)
HP:0001199 Triphalangeal thumb Frequent (79-30%)
HP:0001629 Ventricular septal defect Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID