Pallister-Hall syndrome (PHS) is a rare autosomal dominant congenital disorder that is characterised by polydactyly, hypothalamic hamartoma, hypopituitarism, bifid epiglottis, and imperforate anus.
PHS is caused by mutations of the GLI3 gene (7p13). Typical facial features are normal, but some patients have short nose, cleft palate, gingival cysts, cleft larynx or bifid epiglottis and midface retrusion. Most patients with PHS require surgery due to primarily polydactyly or syndactyly, but a few may need surgery for imperforate anus, or genitourinary malformations. Patients with hypopituitarism need steroid and other hormonal replacement therapy. Renal or ear anomalies, deafness, epilepsy, and intellectual disability/ mental retardation are uncommon, but are also associated with PHS.