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Pallister-Hall syndrome
Genetics:
- autosomal dominant
- associated with frameshift mutations in gli-3 gene
Clinical manifestations:
1) hypopituitarism
2) postaxial or central polydactyly
3) hypothalamic hamartoblastoma
4) short limbs
5) laryngeal cleft
6) renal agenesis
7) renal dysplasia
8) microglossia
9) micrognathia
10) cleft palate
11) imperforate anus
11) congenital heart defect
Laboratory:
- see ARUP consult [2]
Differential diagnosis:
1) Smith-Lemli-Opitz syndrome type II
2) pseudotrisomy 13 syndrome or holoprosencephaly-polydactyly syndrome (OMIM 264480)
3) orofaciodigital (OFD) syndrome type VI or Varadi-Papp syndrome (OMIM 277170)
4) hydrolethalus syndrome (OMIM 236680)
General
developmental disorder syndrome (multisystem disorder)
genetic syndrome (multisystem disorder)
Properties
ASSOCIATED-NEOPLASM[S]: HAMARTOBLASTOMA
:SITE hypothalamus
Database Correlations
OMIM 146510
References
- Kang et al. Nature Genet 15:266-8 1997
- ARUP Consult:
Pallister-Hall/Greig Cephalopolysyndactyly Syndromes Testing
https://arupconsult.com/ati/pallister-hall-greig-cephalopolysyndactyly-syndromes-testing