Pallister-Hall syndrome is a disorder that affects the development of many parts of the body. Most people with this condition have extra fingers and/or toes (polydactyly), and the skin between some fingers or toes may be fused (cutaneous syndactyly). An abnormal growth in the brain called a hypothalamic hamartoma is characteristic of this disorder. In many cases, these growths do not cause any health problems; however, some hypothalamic hamartomas lead to seizures or hormone abnormalities that can be life-threatening in infancy. Other features of Pallister-Hall syndrome include a malformation of the airway called a bifid epiglottis, an obstruction of the anal opening (imperforate anus), and kidney abnormalities. Although the signs and symptoms of this disorder vary from mild to severe, only a small percentage of affected people have serious complications.
Inheritance Pattern
Autosomal dominant
Other Names
Hall-Pallister syndrome; PHS
Related Genetics Topics
- GLI3 — MedlinePlus Genetics
Identifiers
- GTR: C0265220
- MeSH: D054975
- OMIM: 146510
- SNOMED CT: 56677004
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
