Living with Chromosome 2q37 deletion syndrome
A missing piece of chromosome 2 that can cause low muscle tone, intellectual disability, behavior differences, and short fingers and toes.
Understanding Chromosome 2q37 deletion syndrome
Most babies have low muscle tone (hypotonia), which usually improves with age. Other common features are mild to severe intellectual disability, delayed motor skills, and behavior problems. About 25 percent have autism spectrum disorder. About half have unusually short fingers and toes (brachydactyly). Short stature, obesity, and sparse hair may occur. GARD lists onset at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy
- Intellectual disability
- Behavior differences
- Small head size (microcephaly)
- Short fingers and toes
- Heart differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in HDAC4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is caused by a missing piece (deletion) of chromosome 2 at q37. The HDAC4 gene is listed, and it is autosomal dominant.
Also known as: 2q37 deletion syndrome; 2q37 microdeletion syndrome; 2q37 monosomy; albright hereditary osteodystrophy type 3; albright hereditary osteodystrophy-like syndrome; bdmr
Patient organizations
- Simons SearchlightChromosome 2q37 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 2q37 deletion syndrome.
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