Intellectual disability-sparse hair-brachydactyly syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
Definition
Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.
Also known as intellectual disability-sparse hair-brachydactyly syndrome, Nicolaides-Baraitser syndrome, SMARCA2-related BAFopathy — per MONDO