Facial Features associated with BBS

Last reviewed 1 Jan 2018

Authoring team

patients with BBS do not always develop characteristic facial dysmorphism, common dysmorphic features include:
- deep set eyes
- hypertelorism
- downward slanting palpebral fissures
- flat nasal bridge
- anteverted nares
- prominent nasolabial folds
- a long philtrum
- thin upper lip
- prominent forehead
- early balding in males

Reference:

(1) Bardet-Biedl Syndrome, Encyclopaedia of Genetic Disorders, 2002
(2) Beales, P. L., et al. "New Criteria for Improved Diagnosis of Bardet-Biedl Syndrome: Results of a Population Survey." Journal of Medical Genetics 36 (1999): 437-446

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