Living with Deletion 5q35
A group of conditions caused by a missing piece at the end of chromosome 5, sometimes including Sotos syndrome.
Understanding Deletion 5q35
A deletion in 5q35.2 that includes the NSD1 gene causes Sotos syndrome, with excessive growth in childhood, a large head, distinct facial features, and learning difficulty. Very rare deletions in 5q35.3 are linked to swelling before birth, low muscle tone, short stature, and minor heart differences. GARD lists onset during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences
- Poor weight gain in infancy
- Slow growth in childhood
- Larger head size (macrocephaly)
- Low muscle tone (hypotonia)
- Delayed motor skills
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 Simons Searchlight 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
It is caused by a deletion, a missing piece of chromosome 5 at 5q35. In some people the deletion includes the NSD1 gene, which causes Sotos syndrome.
Also known as: del (5)(q35); del (5)(qter); deletion type 5q35; distal 5q deletion; monosomy 5q35; telomeric deletion 5q
Patient organizations
- Simons SearchlightDeletion 5q35 · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Deletion 5q35.
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- Eligibility is confirmed by the study team
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