Pallister-Hall syndrome , PHS (Abkürzung)

Pallister-Hall syndrome is a disorder that affects the development of many parts of the body.

Pallister-Hall syndrome has autosomal dominant inheritance.

Mutations in the GLI3 gene cause Pallister-Hall syndrome.

Mutations that cause Pallister-Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein.

It remains uncertain how GLI3 mutations can cause polydactyly, hypothalamic hamartoma, and the other features of Pallister-Hall syndrome.

Laryngeal cleft can be a component of other genetic syndromes, including Pallister-Hall syndrome and G syndrome (Opitz-Friaz syndrome).

Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B.