Living with Clark-Baraitser syndrome
A rare genetic condition with learning disability, delayed speech, weight gain, a large head, and behavior differences.
Understanding Clark-Baraitser syndrome
Behavior features include aggressive tantrums and autistic-like behavior, and speech develops late. Facial features include a large, square forehead, a broad nose tip, large ears, and a prominent lower lip. Minor dental differences are common. GARD lists onset from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Global developmental delay
- Aggressive or autistic-like behavior
- Low muscle tone (hypotonia)
- Large earlobes and downturned mouth corners
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 hormone specialists.
- 3Consider genetic testing
Changes in TRIP12 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); Hormone specialists (endocrinologists)
- 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
- 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 the TRIP12 gene cause this condition. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: baraitser syndrome; clark baraitser syndrome; intellectual disability, autosomal dominant 49
Patient organizations
- Simons SearchlightClark-Baraitser syndrome · United States
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