Overview
Radial ray hypoplasia-choanal atresia syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The two main features of this syndrome are radial ray defects and choanal atresia. Radial ray defects refer to problems with the development of the thumb side of the forearm and hand — this can range from a slightly small or absent thumb to a shortened or missing radius bone (the bone on the thumb side of the forearm). Choanal atresia means that the back of the nasal passages are blocked by bone or tissue, which can make it very difficult for newborns to breathe through their nose. Since newborns naturally breathe through their noses, choanal atresia can be a serious problem right after birth. Some affected individuals may also have other birth defects. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are still being understood. Treatment is mainly surgical and supportive, focusing on correcting the blocked nasal passages and addressing limb differences through orthopedic care and rehabilitation. Early intervention is important to ensure proper breathing and to maximize hand and arm function.
Also known as:
Key symptoms:
Underdeveloped or absent thumbShortened or missing forearm bone on the thumb sideBlocked nasal passages at birth (choanal atresia)Difficulty breathing through the noseFeeding difficulties in newbornsReduced grip strength or hand functionAsymmetric arm or hand appearancePossible additional limb abnormalities
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Radial ray hypoplasia-choanal atresia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Radial ray hypoplasia-choanal atresia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Radial ray hypoplasia-choanal atresia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's choanal atresia, and when should surgery be performed?,What is the extent of the radial ray defect, and what surgical options are available?,Should we pursue genetic testing to rule out other conditions like Fanconi anemia or CHARGE syndrome?,What therapies (occupational therapy, physical therapy) should we start, and when?,Are there any other organs or systems we should screen for problems?,What is the long-term outlook for my child's breathing and hand function?,Is genetic counseling recommended for future family planning?
Common questions about Radial ray hypoplasia-choanal atresia syndrome
What is Radial ray hypoplasia-choanal atresia syndrome?
Radial ray hypoplasia-choanal atresia syndrome is an extremely rare genetic condition that affects multiple parts of the body during development before birth. The two main features of this syndrome are radial ray defects and choanal atresia. Radial ray defects refer to problems with the development of the thumb side of the forearm and hand — this can range from a slightly small or absent thumb to a shortened or missing radius bone (the bone on the thumb side of the forearm). Choanal atresia means that the back of the nasal passages are blocked by bone or tissue, which can make it very difficul
How is Radial ray hypoplasia-choanal atresia syndrome inherited?
Radial ray hypoplasia-choanal atresia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Radial ray hypoplasia-choanal atresia syndrome typically begin?
Typical onset of Radial ray hypoplasia-choanal atresia syndrome is neonatal. Age of onset can vary across affected individuals.