Pallister Hall syndrome (PHS)

Genetics

• This is caused by mutations in the GLI3 gene on chromosome 7
• The gene is linked to the sonic hedgehog (shh) pathway
• It is also associated with Greig cephalopolysyndactyly syndrome (GCPS)
• The transmission is autosomal dominant

Neurological features

Common systemic features

Rare systemic features

References

1. Helen Cross J, Spoudeas H. Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia 2017; (58 Suppl 2):16-21.
2. Ler GYL, Liew WK, Lim J, et al. Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: think Pallister-Hall syndrome. Neurology 2019; 93:e1016-e1017. 
3. Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997; 15:266-268.
4. Hall JG, Pallister PD, Clarren SK, et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly-a new syndrome? Part I: clinical, causal, and pathogenetic considerations. Am J Med Genet 1980; 7:47-74.
5. Hayek F. Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. J Med Case Rep 2018; 12:354. 

Related checklists

• Hypothalamic hamartoma: clinical features
• Hypothalamic hamartoma: management
• Hypophysitis
• Diancephalic syndrome