Living with Thumb stiffness-brachydactyly-intellectual disability syndrome
A very rare genetic condition with stiff thumbs, short hand bones, and mild to moderate intellectual disability.
Understanding Thumb stiffness-brachydactyly-intellectual disability syndrome
Both thumbs are stiff and the long bones of the hand are different. People often have mild differences in the face and signs of obesity. It is noticed in the newborn period or infancy. GARD says there have been no further descriptions in the medical literature since 1990.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff thumbs
- Short fingers or toes (type A brachydactyly)
- Differences in the long bones of the hand
- Joint stiffness
- Intellectual disability
- Obesity
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.
- 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); 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 rare disease patient organizations for support
- 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 changes in genes (variants) cause this condition and that it is autosomal dominant, so one changed copy of a gene can be enough. It doesn't name a specific gene.
Also known as: piussan-lenaerts-mathieu syndrome; thumbs, stiff, with brachydactyly type a1 and developmental delay
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Thumb stiffness-brachydactyly-intellectual disability syndrome.
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