lipodystrophy-intellectual disability-deafness syndrome
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.
MONDO:0015333
progeroid syndrome
excluded_subClassOf
MONDO:0019705
obsolete primary bone dysplasia with defective bone mineralization (obsolete MONDO:0019705)
excluded_subClassOf
MONDO:0020087
hereditary lipodystrophy
is_a
Rajab-Spranger syndrome
exact
lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones
related