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).

Also known as: Stratton-Garcia-Young syndrome, brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face, brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face

0 clinical trials for this condition and its sub-types, 0 tagged with Brachydactyly-mesomelia-intellectual disability-heart defects syndrome itself.