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ORPHA:1001

2q37 microdeletion syndrome

low confidenceDisorder

Also known as: Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome · Brachydactyly-intellectual disability syndrome · Del(2)(q37) · Deletion 2q37 · Monosomy 2q37qter

Publications

12,616

Trials

0

Interventional, condition-specific

Researchers

1,485

Distinct authors in sample

Gene link

HDAC4

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate /, brachymetaphalangy of digits 3-5, short stature, obesity, , specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.

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.

Additional Mondo synonyms (8)

2q37 monosomy · BDMR · brachydactyly intellectual disability syndrome · brachydactyly mental retardation syndrome · brachydactyly-intellectual disability syndrome · deletion 2q37 · deletion 2q37-qter · monosomy 2q37-qter

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Limited — HDAC4

  2. LiteraturePresent

    12,616 matched papers (8,567 in last 10 years) Source

  3. Phenotype characterisedPresent

    95 HPO annotations (e.g. Joint hypermobility; Round face; 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Possibly — only limited evidence so far for HDAC4.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

95

Associated phenotypes · MONDO:0010886

  • Joint hypermobility
  • Round face
  • Intellectual disability
  • Hypotonia
  • Global developmental delay

Showing 5 of 95 — 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?

12,616

12,616 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,616 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).

8,567 in the last 10 years · low confidence

Phrase hits: 209 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,485

Distinct author names in 200 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
    Elli FM5 papers · 2022

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Elsea SH5 papers · 2021

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, Virginia, United States of America.

    Papers in Europe PMC
  3. 03
    Mantovani G5 papers · 2022

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Wang X4 papers · 2025

    Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Yang XJ4 papers · 2021

    From the Rosalind & Morris Goodman Cancer Research Center, Department of Medicine, McGill University, Quebec H3A 1A3, the Department of Biochemistry, McGill University and McGill University Health Center, Montreal, Quebec H3A 1A3, Canada xiang-jiao.yang@mcgill.ca.

    Papers in Europe PMC
  6. 06
    Zhang X4 papers · 2025

    Department of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming, China.

    Papers in Europe PMC
  7. 07
    Arosio M3 papers · 2022

    Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Betancur C3 papers · 2015

    Institut National de la Santé et de la Recherche Médicale U1130, 75005 Paris, France; Centre National de la Recherche Scientifique UMR 8246, 75005 Paris, France; Neuroscience Paris Seine, Université Pierre et Marie Curie (Paris 6), Sorbonne Universités, 75005 Paris, France. Electronic address: catalina.betancur@inserm.fr.

    Papers in Europe PMC
  9. 09
    Gullotta F3 papers · 2010

    Dipartimento di Biopatologia e Diagnostica per Immagini, Università di Roma Tor Vergata and Azienda Ospedaliera Universitaria Policlinico Tor Vergata, Roma, Italy.

    Papers in Europe PMC
  10. 10
    Leboyer M3 papers · 2015

    FondaMental Foundation, 94010 Créteil, France; Institut National de la Santé et de la Recherche U955, Psychiatrie Génétique, 94010 Créteil, France; Faculté de Médecine, Université Paris Est, 94010 Créteil, France; Department of Psychiatry, Henri Mondor-Albert Chenevier Hospital, Assistance Publique - Hôpitaux de Paris, 94010 Créteil, France.

    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).

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2q37 microdeletion 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.

("2q37 microdeletion syndrome" OR "Albright hereditary osteodystrophy type 3" OR "Albright hereditary osteodystrophy-like syndrome" OR "Brachydactyly-intellectual disability syndrome" OR "Del(2)(q37)" OR "Deletion 2q37" OR "Monosomy 2q37qter" OR "2q37 monosomy" OR "brachydactyly intellectual disability syndrome" OR "brachydactyly mental retardation syndrome" OR "deletion 2q37-qter" OR "monosomy 2q37-qter") OR ("HDAC4" OR "HDAC4 syndrome" OR "HDAC4-related")

Run this search on Europe PMC

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

"2q37 microdeletion syndrome" OR "Albright hereditary osteodystrophy type 3" OR "Albright hereditary osteodystrophy-like syndrome" OR "Brachydactyly-intellectual disability syndrome" OR "Del(2)(q37)" OR "Deletion 2q37" OR "Monosomy 2q37qter" OR "2q37 monosomy" OR "brachydactyly intellectual disability syndrome" OR "brachydactyly mental retardation syndrome" OR "deletion 2q37-qter" OR "monosomy 2q37-qter"

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

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BDMR

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (12616) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:10:01.183Z