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2q37 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

2q37 microdeletion syndrome

MONDO:0010886

Also known as:2q37 monosomyAlbright hereditary osteodystrophy type 3Albright hereditary osteodystrophy-like syndrome

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Overview

A chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

GeneticsMultifactorial, Autosomal dominant

Clinical Trials1 registered · 1 recruiting

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 always present findings: Broad face, Motor stereotypy, Delayed speech and language development, and Global developmental delay; and very common findings: Motor delay, Broad nasal tip, Type E brachydactyly, and Malar flattening and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Seizure, Aggressive behavior, Intellectual disability

Diagnosis

Biomarker and diagnostic research for 2q37 microdeletion syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 5 very common features, 9 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for 2q37 microdeletion syndrome. Research spans Case Report / Case Series (61%), Basic Science / Preclinical (17%), and Other (6%).

Research Type	Count	% of Total
Patient case studies	11	61%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 2:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600430

Orphanet

European rare disease database

Orphanet:1001

GARD

Genetic and Rare Diseases Info Center

GARD:10202

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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2q37 microdeletion 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

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Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

2q37 microdeletion 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

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA