Living with Choanal atresia with radial ray hypoplasia
A very rare condition present from infancy that affects the nasal passages and the thumb-side bones of the forearm and hand.
Understanding Choanal atresia with radial ray hypoplasia
Most people have an underdeveloped left radial ray, which can range from a missing radius and thumb bones to smaller wrist and hand bones or a thumb with three bones. People also have blocked or abnormal nasal passages (choanal malformations) and esotropia (an inward turning of the eye). GARD says there have been no new descriptions in the medical literature since 1987.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but the summary describes these features:
- Underdeveloped bones on the thumb side of the forearm and hand
- Missing or small thumb bones
- Thumb with three bones
- Nasal passage differences (choanal malformation)
- Inward-turning eye (esotropia)
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 ear, nose, and throat specialists, eye disease 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
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
- 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 cause this condition but doesn't name a specific gene. It is autosomal dominant, so one changed copy of a gene can be enough.
Also known as: goldblatt viljoen syndrome; goldblatt-viljoen syndrome; radial ray hypoplasia and choanal atresia; radial ray hypoplasia choanal atresia; radial ray hypoplasia-choanal atresia syndrome
Patient organizations
Rare-disease groups that can help
- 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 Choanal atresia with radial ray hypoplasia.
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