Living with Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
A severe form of Rubinstein-Taybi syndrome caused by a missing piece of chromosome 16, with poor growth, low muscle tone, and organ differences.
Understanding Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
The deletion causes a severe form of Rubinstein-Taybi syndrome. Some researchers think it is a unique emerging syndrome. Features include poor weight gain, low muscle tone, short stature, a small head, mild to moderate intellectual disability, and heart or kidney differences. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Broad thumbs and big toes
- Poor weight gain
- Delayed speech and language
- Constipation and acid reflux
- 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, 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 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
It is caused by a small deletion at 16p13.3 on chromosome 16. In most cases parents have no chromosome change, but sometimes a parent has a balanced translocation, so testing both parents can help.
Also known as: 16p13.3 deletion syndrome; chromosome 16p13.3 deletion syndrome, proximal; rsts deletion syndrome; rubinstein-taybi deletion syndrome
Patient organizations
- Simons SearchlightRubinstein-Taybi syndrome due to 16p13.3 microdeletion · United States
- Chromosome Disorder OutreachChromosome disorders · 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 due to 16p13.3 microdeletion.
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