Pallister Hall syndrome (PHS)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Pallister Hall syndrome (PHS). This is caused by mutations in the GLI3 gene on chromosome 7. Fully referenced neurology checklist.
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
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Common systemic features
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Rare systemic features
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References
- Helen Cross J, Spoudeas H. Medical management and antiepileptic drugs in hypothalamic hamartoma. Epilepsia 2017; (58 Suppl 2):16-21.
- Ler GYL, Liew WK, Lim J, et al. Teaching NeuroImages: Hypothalamic hamartoma and polydactyly: think Pallister-Hall syndrome. Neurology 2019; 93:e1016-e1017.
- Kang S, Graham JM Jr, Olney AH, Biesecker LG. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997; 15:266-268.
- 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.
- Hayek F. Pallister-Hall syndrome with orofacial narrowing and tethered cord: a case report. J Med Case Rep 2018; 12:354.
