Living with Chromosome 1p32-p31 deletion syndrome
A missing piece of chromosome 1 that causes developmental delay, brain and urinary tract differences, and a large head size.
Understanding Chromosome 1p32-p31 deletion syndrome
Features include developmental delay, a missing or underdeveloped corpus callosum (the brain structure joining its two sides), and a large head from extra fluid in the brain. Urinary tract problems are common. Low muscle tone, a tethered spinal cord, Chiari type I malformation, and seizures have been reported. GARD lists onset at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Larger head size (macrocephaly)
- Underdeveloped corpus callosum
- Chiari type I malformation
- Attention deficit (ADHD)
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 and genetic specialists.
- 3Consider genetic testing
Changes in NFIA 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)
- 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 it results from a partial deletion of the short arm of chromosome 1. The NFIA gene is listed.
Also known as: 1p31p32 microdeletion syndrome; del(1)(p31p32); monosomy 1p31p32
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 Chromosome 1p32-p31 deletion syndrome.
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