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Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
MMEP syndrome
Syndromic microphthalmia type 8
Viljoen Smart syndrome
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome
A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.
syndroom van microcefalie, microftalmie, ectrodactylie van onderste extremiteiten en prognathie
Id715533002
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteEntire eye
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyProtrusion
Finding siteBone structure of jaw
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbsence
Finding siteEntire digit
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified