Overview
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability is a very rare genetic condition that mainly affects females. It is sometimes referred to by its Orphanet code ORPHA:480880. The condition is caused by a change (variant) in a gene located on the X chromosome, and for reasons that are not yet fully understood, it appears to cause symptoms primarily in females rather than males. This condition affects several parts of the body at once. The most noticeable features include a distinctive facial appearance, being shorter than average for age, blockage of the nasal passages at the back of the nose (called choanal atresia), and varying degrees of intellectual disability or learning difficulties. Choanal atresia can cause serious breathing problems, especially in newborns, and often needs surgical correction early in life. There is currently no cure for this condition. Treatment focuses on managing individual symptoms. This may include surgery to open the nasal passages, educational support for learning difficulties, and therapies such as speech, occupational, and physical therapy. A team of different specialists is usually needed to provide the best care. Early diagnosis and intervention can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Distinctive facial features such as widely spaced eyes, a flat nasal bridge, or other unusual facial proportionsShort stature — being noticeably shorter than peers of the same ageChoanal atresia — a blockage at the back of the nasal passages that can make breathing difficultIntellectual disability or learning difficulties ranging from mild to moderateDelayed speech and language developmentFeeding difficulties, especially in infancyBreathing problems in newborns due to nasal blockagePossible hearing difficulties
Clinical phenotype terms (50)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
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 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
Community
No community posts yet. Be the first to share your experience with X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
Start the conversation →Latest news about X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
No recent news articles for X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which gene is causing this condition in my child, and what does that mean for other family members?,Does my child need surgery for the nasal blockage, and when should it happen?,What therapies — speech, occupational, physical — should we start, and how soon?,What kind of educational support will my child need, and how do we access it?,Are there any other health problems we should watch for as my child grows?,Should other family members, including siblings, be tested?,Are there any clinical trials or research studies we could participate in?
Common questions about X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
What is X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability?
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability is a very rare genetic condition that mainly affects females. It is sometimes referred to by its Orphanet code ORPHA:480880. The condition is caused by a change (variant) in a gene located on the X chromosome, and for reasons that are not yet fully understood, it appears to cause symptoms primarily in females rather than males. This condition affects several parts of the body at once. The most noticeable features include a distinctive facial appearance, being shorter than average for age, block
How is X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability inherited?
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability typically begin?
Typical onset of X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability is neonatal. Age of onset can vary across affected individuals.