Living with Chromosome 2q32-q33 deletion syndrome
A rare genetic condition present at birth with intellectual disability, behavior differences, a small head, and often a cleft palate.
Understanding Chromosome 2q32-q33 deletion syndrome
People have moderate to severe intellectual disability and behavior issues. They may be shorter than usual with a smaller head (microcephaly), unusual nails, and less hair growth. A cleft palate and distinct facial features may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech and language
- Cleft palate
- Low facial muscle tone
- Broad forehead and broad nasal tip
- Crowded teeth
- Bowing of the shin bones
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 brain and nervous system specialists, ear, nose, and throat specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in SATB2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 SATB2 Gene Foundation 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 q32-q33. The SATB2 gene is listed, and it is autosomal dominant.
Also known as: 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; 2q33.1 deletion syndrome; del(2)(q32); del(2)(q32q33); glass
Patient organizations
- SATB2 Gene FoundationChromosome 2q32-q33 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 2q32-q33 deletion syndrome.
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