/intellectual disability-sparse hair-brachydactyly syndrome

intellectual disability-sparse hair-brachydactyly syndrome

Rare Disease

MONDO:0011053

Also Known As

Nicolaides-Baraitser syndromeSMARCA2-related BAFopathyintellectual disability-sparse hair-brachydactyly syndromeNBsNCBRSNICOLAIDES-Baraitser syndromesparse hair and intellectual disabilitysparse hair and mental retardation

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.