Living with SATB2 associated disorder
A rare genetic condition with developmental delay, limited or absent speech, behavior differences, and distinct facial and mouth features.
Understanding SATB2 associated disorder
Speech is absent or limited. Behavior differences may include autistic features, hyperactivity, or aggression. Facial features can include a long face, a high forehead, and a cleft or high palate. Low muscle tone and feeding difficulties are frequent. It begins in the newborn and infant period.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these:
- Developmental delay and intellectual disability
- Absent or limited speech
- Behavior differences, including hyperactivity
- Cleft palate or high-arched palate
- Low muscle tone and feeding difficulties
- Low bone density
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
It is caused by changes in the SATB2 gene. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: sas; satb2-associated syndrome
Patient organizations
- SATB2 Gene FoundationSATB2 associated disorder · 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 SATB2 associated disorder.
Explore research for SATB2 associated disorder
Explore actively recruiting SATB2 associated disorder studies with HealthSpark.
Find actively recruiting studies for SATB2 associated disorder with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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