RARE DISEASERESEARCH ATLAS
Open navigation menu

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

32.6th percentile

Trials

0

Interventional, condition-specific

Researchers

176

Distinct authors in sample

Gene link

—

Readiness

3/6

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.”

3/6 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 characterisedPresent

    40 HPO annotations (e.g. Sensorineural hearing impairment; Osteopenia; Intellectual disability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 124 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)

40

Associated phenotypes · MONDO:0011976

  • Sensorineural hearing impairment
  • Osteopenia
  • Intellectual disability
  • Global developmental delay
  • Failure to thrive

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

16 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

15 in the last 10 years · high confidence · 32.6th 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). 124 trials are registered for lipodystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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

Broader category: lipodystrophy

124

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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Lipodystrophy-intellectual disability-deafness syndrome — check Associations / patient organisations on that page.

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