Cleft lip/palate-deafness-sacral lipoma syndrome

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Synonyms: Cleft lip/palate-hearing loss-sacral lipoma syndrome | Lowry-Yong syndrome

Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate profound sensorineural deafness and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.

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 http://www.orphadata.org. Data version July 2024

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