Living with Temple-Baraitser syndrome
A rare genetic condition present from birth that affects the brain, hands, feet, and nails, with severe delay in speech and learning.
Understanding Temple-Baraitser syndrome
Symptoms usually begin before birth or in infancy. It can cause differences in brain structure, no speech or language development, and severe intellectual disability. The hands, feet, and nails can be shaped differently, and facial features can vary. Seizures, constipation, low muscle tone, delayed tooth development, and short stature can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No speech development
- Severe intellectual disability
- Low muscle tone
- Small head size
- Absent or small toenails and broad thumbs
- Seizures, constipation, and delayed teeth
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KCNH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Cure KCNH1 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
Changes in the KCNH1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome; severe intellectual disability, hypoplasia of thumb and hallux syndrome; temple baraitser syndrome; tmbts
Patient organizations
- Cure KCNH1 FoundationTemple-Baraitser syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Temple-Baraitser syndrome.
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