Living with 1p35.2 microdeletion syndrome
A very rare chromosome condition that can bring slower growth, short height, learning challenges, and hearing loss.
Understanding 1p35.2 microdeletion syndrome
People with this condition may grow more slowly before and after birth and have short stature. Other features include developmental delay, learning difficulties, hearing loss, and farsightedness. There is also a recognizable pattern of facial features, such as a prominent forehead, a small mouth, and a small lower jaw. GARD lists onset as newborn.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Slow growth before and after birth
- Short stature
- Developmental delay
- Learning difficulties
- Hearing loss
- Farsightedness (hypermetropia)
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 bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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 Chromosome Disorder Outreach
- 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 genes (also called variants) cause this condition. The summary describes it as a chromosome change, a missing piece of chromosome 1.
Also known as: del(1)(p35.2); deletion 1p35.2; monosomy 1p35.2
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · 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 1p35.2 microdeletion syndrome.
Explore research for 1p35.2 microdeletion syndrome
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- Recruiting studies from ClinicalTrials.gov
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