Living with Rubinstein-Taybi syndrome
A genetic condition with short height, intellectual disability, distinct facial features, and broad thumbs and big toes.
Understanding Rubinstein-Taybi syndrome
Moderate to severe intellectual disability is typical. Other features can include eye differences, heart and kidney defects, dental problems, and obesity. These vary between people. GARD notes an increased risk of certain noncancerous brain and skin tumors. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Broad thumbs and big toes
- Small head size (microcephaly)
- Beaked nose
- Heart and urinary tract differences
- Attention and behavior differences
- Blocked tear ducts
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, cancer specialists and eye disease specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- 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 Congenital Hyperinsulinism International 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 lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It does not name a gene in this record.
Also known as: broad thumb-hallux syndrome; broad thumbs-halluces syndrome; proximal chromosome 16p13.3 deletion syndrome; rsts; rubinstein syndrome
Patient organizations
- Congenital Hyperinsulinism InternationalRubinstein-Taybi syndrome · United States
- Simons SearchlightRubinstein-Taybi syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Rubinstein-Taybi syndrome.
Explore research for Rubinstein-Taybi syndrome
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- 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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