brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Stratton-Garcia-Young syndrome
exact
brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face
related
brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face
related