Sensenbrenner syndrome, catalogued as OMIM 218330, is a very rare ciliopathy, a disorder of the cell structures called cilia, with fewer than twenty cases reported by 2010. It was first described by Judith A. Sensenbrenner in 1975. The condition is inherited in an autosomal recessive fashion and is caused by a loss of function mutation in one of three genes, IFT122, IFT43 or WDR35. It is also known as Sensenbrenner-Dorst-Owens syndrome, Levin syndrome I and cranioectodermal dysplasia, often abbreviated CED. The source lead gives no account of the physical features, the age at which it appears, or its management, so this entry records identification, genetics and history only and leaves the clinical picture for later work.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.5Quote, Category Q87.5
Q87.5 Other congenital malformation syndromes with other
2. Sensenbrenner syndrome (Wikipedia)
Lead
caused by a loss of function mutation in one of three genes: IFT122, IFT43, and WDR35
Lead [disease-category]
It is inherited in an autosomal recessive fashion
Lead [first-described-year]
first described by Judith A. Sensenbrenner in 1975
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