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Lipodystrophy-intellectual disability-deafness syndrome

MONDO:0011976

Lipodystrophy-intellectual disability-deafness syndrome is an extremely 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.

Also known as: Rajab-Spranger syndrome, lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones, lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones

34 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Skin disorder (123) Inborn errors of metabolism (42) Lipodystrophy (26) Human disease (14) Hereditary skin disorder (5) Disease of genetic or genomic mechanism (2) Hereditary lipodystrophy (2)
Trials to join now! 19 Not yet recruiting 4 Not yet finished but already full! 4 Completed 7
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