/lipodystrophy-intellectual disability-deafness syndrome

lipodystrophy-intellectual disability-deafness syndrome

Rare Disease

MONDO:0011976

Also Known As

Rajab-Spranger syndromelipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender boneslipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones

Definition

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.