Brachyonychia in a patient with Bardet-Biedl syndrome: Case report and review of this rare syndrome

Bardet-Biedl syndrome (BBS) is a variably expressive autosomal recessive multisystem disorder caused by more than 20 distinct genes involved in cilia functioning, with a prevalence of approximately 1:100,000 in North America and Europe.1 Primary features include polydactyly (with supernumerary digits), genital abnormalities, rod-cone dystrophy resulting in retinitis pigmentosa and blindness, obesity, renal defects, and learning difficulties. Secondary features include brachydactyly (shortening of the digits) or syndactyly (fusion of 2 or more digits), dental defects, ataxia or poor coordination, developmental delay, speech deficit, olfactory deficit, diabetes mellitus, and congenital heart disease.