ORPHA:1001
2q37 microdeletion syndrome
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
209
68.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,485
Distinct authors in sample
Gene link
HDAC4
Limited
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010886
- MeSH:C538317
- OMIM:600430
- UMLS:C2931817
- NCIT:C129021
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.”
2/6 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.
- Gene identifiedPresent
Limited — HDAC4
- LiteraturePresent
209 matched papers (113 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
209
209 papers have ever been published on this condition (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.
209 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).
113 in the last 10 years · medium confidence · 68.5th percentile (publications denominator)
Phrase hits: 209 · MeSH hits: 0
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.
- 01Elli 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 - 02Elsea 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 - 03Mantovani 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 - 04Wang 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 - 05Yang 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 - 06Zhang X4 papers · 2025
Department of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming, China.
Papers in Europe PMC - 07Arosio M3 papers · 2022
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 08Betancur 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 - 09Gullotta 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 - 10Leboyer 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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"
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" OR "HDAC4"
Recall-expansion terms: HDAC4
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
Ingested 2026-07-26T16:10:01.183Z