Lambert syndrome

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Lambert syndrome

Synonyms: Branchial dysplasia-intellectual disability-inguinal hernia syndrome

A very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia macrostomia preauricular tags and meatal atresia) club feet inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Lambert syndrome?

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