Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Synonyms: Stratton-Garcia-Young 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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

Newly diagnosed with
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.