brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Rare Disease

MONDO:0015259

Also Known As

Stratton-Garcia-Young syndromebrachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic facebrachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face

Definition

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).