Living with Chromosome 1p36 deletion syndrome
A chromosome condition that causes intellectual disability, limited speech, low muscle tone, seizures, and distinct facial features.
Understanding Chromosome 1p36 deletion syndrome
Most people do not speak or speak only a few words, and some have temper tantrums or bite themselves. Most have brain differences, and seizures occur in more than half. Low muscle tone and trouble swallowing are usual. People have a small, short, wide head and distinct facial features, and often short fingers and toes. GARD lists onset during pregnancy and at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent or limited speech
- Small head size (microcephaly)
- Walking or gait problems
- Acid reflux
- Vision problems
- 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 brain and nervous system specialists, genetic specialists, heart and blood vessel 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
Children's Cardiomyopathy Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, 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 1p36 Deletion Support & Awareness 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
GARD says it is caused by a missing piece (deletion) of chromosome 1 at 1p36.
Also known as: 1p telomere deletion syndrome; 1p36; 1p36 deletion syndrome; 1p36 microdeletion syndrome; 1p36.33 deletion; chromosome 1p36 deletion syndrome, distal, isolated cases
Patient organizations
- 1p36 Deletion Support & AwarenessChromosome 1p36 deletion syndrome · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 1p36 deletion syndrome.
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