MMEP syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016073
syndromic microphthalmia
is_a
MCOPS8
exact
MMEP
related
Viljoen Smart syndrome
related
Viljoen-Smart syndrome
exact
microcephaly microphthalmia ectrodactyly of lower limbs and prognathism
related
microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
exact
microphthalmia syndromic 8
related
microphthalmia, syndromic 8
related
syndromic microphthalmia type 8
exact