Living with 4q25 proximal deletion syndrome
A rare chromosome condition that can bring behavior challenges, developmental delay, and subtle facial and hand differences.
Understanding 4q25 proximal deletion syndrome
It brings complex behavior difficulties and developmental delay or intellectual disability. There are minor facial differences, such as subtle asymmetry, a long nasal bridge, small low-set ears, and a narrow mouth. Mild hand differences, such as short fifth metacarpals and short hands, can occur. GARD lists onset as infant.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Complex behavior difficulties
- Developmental delay
- Intellectual disability
- Subtle facial asymmetry
- Small, low-set ears
- Short hands
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 changes in genes (also called variants) cause this condition. The summary describes a partial deletion of the long arm of chromosome 4.
Also known as: proximal del(4)(q25); proximal monosomy 4q25
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 4q25 proximal deletion syndrome.
Explore research for 4q25 proximal deletion syndrome
Explore actively recruiting 4q25 proximal deletion syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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