Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Hypertelorism-hypospadias-polysyndactyly syndrome

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.

Eyelid coloboma

A short discontinuity of the margin of the lower or upper eyelid.

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PMID (PMCID)