orofaciodigital syndrome type 14
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015375
orofaciodigital syndrome
is_a
C2CD3 orofaciodigital syndrome
exact
OFD14
exact
microcephaly-cerebral malformation-orofaciodigital syndrome
exact
oral-facial-digital syndrome type 14
exact
orofaciodigital syndrome XIV
related
orofaciodigital syndrome caused by mutation in C2CD3
exact
orofaciodigital syndrome type 14
exact