Living with Recombinant 8 syndrome
A genetic condition with heart and urinary tract differences, intellectual disability, and a distinctive facial look.
Understanding Recombinant 8 syndrome
The most common heart differences are tetralogy of Fallot and conotruncal defects. Facial features include a wide, square face, a thin upper lip, a downturned mouth, a small chin, and wide-set eyes. People may also have overgrown gums, tooth differences, cleft lip or palate, ear infections, or hearing loss. Males often have undescended testes. GARD lists onset in the newborn or infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Heart differences, such as tetralogy of Fallot
- Kidney and urinary tract differences
- Intellectual disability
- Distinct facial features
- Repeated ear infections and hearing loss
- Cleft lip or palate
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 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 lists autosomal dominant inheritance. It doesn't name a gene here.
Also known as: chromosome 8q22.1-qter duplication and 8pter-p23.1 deletion; duplication 8q/deletion 8p; rec(8) syndrome; rec8 syndrome; recombinant chromosome 8 syndrome; san luis valley syndrome
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 Recombinant 8 syndrome.
Explore research for Recombinant 8 syndrome
Explore actively recruiting Recombinant 8 syndrome studies with HealthSpark.
Find actively recruiting studies for Recombinant 8 syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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