Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

lipodystrophy-intellectual disability-deafness syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lipodystrophy-intellectual disability-deafness syndrome

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

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Short stature, Seizure, Metaphyseal striations, and Short femoral neck and 22 more.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Short femoral neck, Mild bone density loss (osteopenia), Abnormality of carpal bone ossification

Diagnosis

Biomarker and diagnostic research for lipodystrophy-intellectual disability-deafness syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lipodystrophy-intellectual disability-deafness syndrome.

129 publications have been identified in PubMed for lipodystrophy-intellectual disability-deafness syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	91	71%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608154

Orphanet

European rare disease database

Orphanet:50811

GARD

Genetic and Rare Diseases Info Center

GARD:16646

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

lipodystrophy-intellectual disability-deafness syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

lipodystrophy-intellectual disability-deafness syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications