Lipodystrophy-intellectual disability-deafness syndrome

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Lipodystrophy-intellectual disability-deafness syndrome

Synonyms: Lipodystrophy-intellectual disability-hearing loss syndrome | Rajab-Spranger syndrome

A rare form of genetic lipodystrophy reported in 3 patients from one family to date characterized by generalized congenital lipodystrophy low birth weight progressive sensorineural deafness occurring in childhood intellectual deficit progressive osteopenia delayed skeletal maturation skeletal abnormalities described as slender undermineralized tubular bones and dense metaphyseal striations in the distal femur ulna and radius of older patients. Autosomal recessive inheritance has been suggested.

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 December 2023

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