lipodystrophy-intellectual disability-deafness syndrome
Findings
No curated finding names lipodystrophy-intellectual disability-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0011976), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dense metaphyseal bandsHPOHP:0100959
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Generalized lipodystrophyHPOHP:0009064
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
Show the remaining 2
- Small for gestational ageHPOHP:0001518
- Very frequent (80% to 99% of cases)
- Abnormality of bone mineral densityMondoHP:0004348
Where it sits
- A kind of
Other names
1 name
Resolves to: lipodystrophy-intellectual disability-deafness syndrome
- Also called
- Rajab-Spranger syndrome