Cranioectodermal Dysplasia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by distinctive abnormalities of the face and skull, in association with developmental abnormalities of the structures derived from ectodermal tissues.

**Synonyms:** - Sensenbrenner Syndrome