Living with Infantile spasms-broad thumbs syndrome
A rare nervous system condition with spasms, broad thumbs, facial differences, and serious developmental delay.
Understanding Infantile spasms-broad thumbs syndrome
Other features include a small head, a large soft spot, and facial differences. Cataracts, thickened heart muscle, and fluid around the testicle have also been reported. GARD notes there have been no further descriptions in the medical literature since 1990. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Spasms (flexion or extension)
- Profound developmental delay
- Broad thumbs
- Small head (microcephaly)
- Cataracts
- Thickened heart muscle (hypertrophic cardiomyopathy)
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, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- 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 Epilepsy Foundation
- 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 doesn't describe a cause for this condition yet.
Also known as: infantile spasm and broad thumb syndrome; infantile spasms, broad thumbs syndrome; tsao ellingson syndrome; tsao-ellingson syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- 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 Infantile spasms-broad thumbs syndrome.
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