Pallister–Hall syndrome

Also known as: PHS

Hypothalamic hamartoma with polydactyly and imperforate anus.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, birth
Gene(s) involved: GLI3

Etiology & mechanism

GLI3 truncating variants.

Gene(s) involved (1)

GLI3

Symptoms & signs (7)

central polydactylyepiglottis cleftgelastic seizureshypopituitarismhypothalamic hamartomaimperforate anuslaryngeal cleft

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.