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ORPHA:50811

Lipodystrophy-intellectual disability-deafness syndrome

high confidenceDisorder

Also known as: Lipodystrophy-intellectual disability-hearing loss syndrome · Rajab-Spranger syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

16

32.9th percentile

Trials

0

Interventional, condition-specific

Researchers

176

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized lipodystrophy, low birth weight, sensorineural deafness occurring in childhood, intellectual deficit, 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. inheritance has been suggested.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    16 matched papers (15 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 125 for broader category lipodystrophy

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

16

16 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

16 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)

Phrase hits: 16 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

176

Distinct author names in 16 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Nichols CG5 papers · 2026

    Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.

    Papers in Europe PMC
  2. 02
    Chen L3 papers · 2023

    State Key Laboratory of Membrane Biology, College of Future Technology, Institute of Molecular Medicine, Peking University, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, 100871, Beijing, China. chenlei2016@pku.edu.cn.

    Papers in Europe PMC
  3. 03
    Ding D3 papers · 2023

    State Key Laboratory of Membrane Biology, College of Future Technology, Institute of Molecular Medicine, Peking University, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, 100871, Beijing, China.

    Papers in Europe PMC
  4. 04
    McClenaghan C3 papers · 2026

    Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases (CIMED), Washington University, St Louis, MO, 63110, USA.

    Papers in Europe PMC
  5. 05
    van Haaften G3 papers · 2026

    Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, the Netherlands. G.vanHaaften@umcutrecht.nl.

    Papers in Europe PMC
  6. 06
    Wu JX3 papers · 2023

    State Key Laboratory of Membrane Biology, College of Future Technology, Institute of Molecular Medicine, Peking University, Beijing Key Laboratory of Cardiometabolic Molecular Medicine, 100871, Beijing, China.

    Papers in Europe PMC
  7. 07
    Cykowski MD2 papers · 2022

    Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, 77030, USA.

    Papers in Europe PMC
  8. 08
    Dugan AJ2 papers · 2022

    Department of Biostatistics, College of Public Health, University of Kentucky, 201 Multidisciplinary Science Building, 725 Rose Street, Lexington, KY, 40536-0082, USA.

    Papers in Europe PMC
  9. 09
    Fardo DW2 papers · 2022

    Department of Biostatistics, College of Public Health, University of Kentucky, 201 Multidisciplinary Science Building, 725 Rose Street, Lexington, KY, 40536-0082, USA. david.fardo@uky.edu.

    Papers in Europe PMC
  10. 10
    Katsumata Y2 papers · 2022

    Department of Biostatistics, College of Public Health, University of Kentucky, 201 Multidisciplinary Science Building, 725 Rose Street, Lexington, KY, 40536-0082, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 125 trials are registered for lipodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

125 interventional trials matched lipodystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: lipodystrophy

125

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Lipodystrophy-intellectual disability-deafness syndrome" OR "Lipodystrophy-intellectual disability-hearing loss syndrome" OR "Rajab-Spranger syndrome"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Lipodystrophy-intellectual disability-deafness syndrome" OR "Lipodystrophy-intellectual disability-hearing loss syndrome" OR "Rajab-Spranger syndrome" OR "Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"lipodystrophy"

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T00:19:13.100Z