Sensenbrenner syndrome

Sensenbrenner syndrome
Other namesCranioectodermal dysplasia
6-year-old boy with Sensenbrenner syndrome
SpecialtyMedical genetics

Sensenbrenner syndrome (OMIM #218330) is a rare (less than 20 cases reported by 2010) ciliopathy first described by Judith A. Sensenbrenner in 1975. It is inherited in an autosomal recessive fashion, and is caused by a loss of function mutation in one of three genes: IFT122, IFT43, and WDR35.

It is also known as Sensenbrenner–Dorst–Owens syndrome, Levin syndrome I and cranioectodermal dysplasia (CED)

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