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Hamartoma of hypothalamus

Synonyms
Congenital hypothalamic hamartoma syndrome; Hamartoma of the hypothalamus; Hypothalamic hamartoma; Hypothalamic hamartomas

Summary

Pallister-Hall-like syndrome (PHLS) is a pleiotropic autosomal recessive disorder characterized by phenotypic variability. Patients exhibit postaxial polydactyly as well as hypothalamic hamartoma, cardiac and skeletal anomalies, and craniofacial dysmorphisms. Hirschsprung disease has also been observed (Rubino et al., 2018; Le et al., 2020). Pallister-Hall syndrome (146510) is an autosomal dominant disorder with features overlapping those of PHLS, caused by mutation in the GLI3 gene (165240). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CRJS, FZD11, Gx, PHLS, SMOH, SMO
    Summary: smoothened, frizzled class receptor

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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