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Two brothers from a single family presented with hypothalamic hamartomas, post-axial polydactyly, precocious puberty, and global developmental delay consistent with congenital hypothalamic hamartoma syndrome. Exome sequencing identified heterozygous germline SMO variants, including c.1198C>T (p.Arg400Cys) ([PMID:30497210]). No additional unrelated cases have been reported, and segregation is limited to this sibship without parental phenotype, suggesting possible incomplete penetrance. The inheritance is inferred to be autosomal dominant given familial clustering and absence of consanguinity.
Gene–Disease AssociationLimited2 probands in one family, no additional segregation Genetic EvidenceLimitedTwo affected siblings in one family with germline SMO variants ([PMID:30497210]) Functional EvidenceLimitedNo direct functional assays reported for these SMO variants in this syndrome |