Pallister-Hall Syndrome (PHS)

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OMIM 57 146510 Disease Ontology 12 DOID:9248 MeSH 44 D054975 NCIt 50 C84987 SNOMED-CT 68 56677004

MedGen 42 C0265220 KEGG 37 H00502 SNOMED-CT via HPO 69 263681008 396232000 204878001 204912007 204888000 34911001 21321009 69758005 95576001 16507009 32659003 204949001 55726006 43064006 249380003 32614006 63567004 87979003 18910001 80281008 28740008 37126005 194021007 22006008 253251006 204508009 708670007 246800008 11934000 204108000 61142002 21995002 58748004 2109003 123527003 400179000 237774001 32390006 43476002 205131007 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 16026008 30915001 199612005 22033007 396347007 59566000 253549006 30288003 253366007 405752007 70142008 83330001 7305005 32113001 203541003 398309008 204712000 204731006 409623005 91842005 237714006 105985007 240190009 157265008 68359008 417109008 95854004 249310005 276506001 237836003 13867009 24269006 91846008 367524008 15459006 363732003 373662000 386584007 33927004 82598004 35045004 276411001 232461002 232412004 89525009 41962002 249773003 237692001 60023006 307573009 443093007 52299001 9001003 4191007 165534000 more UMLS 73 C0265220

NIH Rare Diseases : ⁵³ Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes (polydactyly), extra skin between the fingers or toes (syndactyly), an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway known as bifid epiglottis. The bifid epiglottis in rare cases may lead to respiratory failure. While the hypothalamic hamartoma in most cases does not cause problems, in some cases it may cause neurological problems such as seizures, growth hormone deficiency, precocious puberty, or a deficiency of many hormones (panhypopituitarism) that can result in cortisol deficiency. Other symptoms of PHS may include imperforate anus, abnormalities in the kidneys, heart defects, small genitalia, lack of fingers, nail problems, cleft palate, bifid uvula, and development delay and behavioral problems.  Pallister-Hall syndrome is caused by mutations in the GLI3 gene. Inheritance is autosomal dominant, however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo) mutation. The diagnosis of Pallister-Hall syndrome can be made when there is a hypothalamic hamartoma and polydactyly. The genetic test that identifies a mutation in the GLI3 gene confirms the diagnosis. Treatment is based on the symptoms, and may include medication for the early treatment of cortisol deficiency and seizures, surgery for imperforate anus and/or polydactyly, and special education when developmental delays are present. The prognosis depends on which symptoms are present and their severity.

MalaCards based summary : Pallister-Hall Syndrome, also known as phs, is related to culler-jones syndrome and mckusick-kaufman syndrome. An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer. Affiliated tissues include pituitary, skin and kidney, and related phenotypes are macrocephaly and hypertelorism

Genetics Home Reference : ²⁵ 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.

OMIM : ⁵⁷ Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996). (146510)

UniProtKB/Swiss-Prot : ⁷⁵ Pallister-Hall syndrome: An autosomal dominant disorder characterized by a wide range of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula, congenital heart malformations, pulmonary or renal dysplasia.

Wikipedia : ⁷⁶ Pallister�??Hall syndrome is a disorder that affects the development of many parts of the... more...

GeneReviews: NBK1465

Clinical features from OMIM:

146510

Search NIH Clinical Center for Pallister-Hall Syndrome

Search GEO for disease gene expression data for Pallister-Hall Syndrome.