Craniorhiny

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ORPHA:157832OMIM:123050Q30.8
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8Treatment centers

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Overview

Craniorhiny is an extremely rare congenital condition that affects the development of the nose and surrounding facial structures. The name comes from 'cranio' (relating to the skull) and 'rhiny' (relating to the nose). People born with craniorhiny typically have significant abnormalities in the shape and structure of the nose, which may include a wide or bifid (split) nasal bridge, widely spaced eyes (hypertelorism), and other midline facial differences. These features are present at birth and result from abnormal development of the facial structures during pregnancy. Because craniorhiny is so rare, the medical literature on this condition is very limited. The condition falls under the broader category of congenital malformations of the nose (ICD-10 code Q30.8). The severity of symptoms can vary from person to person. Some individuals may have primarily cosmetic concerns, while others may experience functional problems such as difficulty breathing through the nose. Treatment for craniorhiny is mainly surgical and supportive. Reconstructive surgery may be performed to improve the appearance and function of the nose and surrounding facial structures. The timing and type of surgery depend on the specific features present and the age of the patient. A team of specialists, including craniofacial surgeons, ear-nose-and-throat doctors, and geneticists, typically work together to plan the best approach for each individual. Because so few cases have been described, there is no standardized treatment protocol, and care is highly individualized.

Key symptoms:

Abnormal shape of the noseWide or split nasal bridgeWidely spaced eyesFlat or underdeveloped midfaceDifficulty breathing through the noseUnusual appearance of the nasal tipPossible cleft or groove along the noseFacial asymmetry

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Craniorhiny.

View clinical trials →

No actively recruiting trials found for Craniorhiny at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Craniorhiny community →

No specialists are currently listed for Craniorhiny.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Craniorhiny.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Craniorhiny

No recent news articles for Craniorhiny.

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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.What specific facial and nasal structures are affected in my child's case?,Is surgery recommended, and if so, at what age should it be done?,Could this condition be part of a broader genetic syndrome?,Should we pursue genetic testing to look for an underlying cause?,Are there any breathing or feeding concerns we should watch for?,What kind of long-term follow-up will my child need?,Can you recommend a craniofacial team with experience in this type of condition?

Common questions about Craniorhiny

What is Craniorhiny?

Craniorhiny is an extremely rare congenital condition that affects the development of the nose and surrounding facial structures. The name comes from 'cranio' (relating to the skull) and 'rhiny' (relating to the nose). People born with craniorhiny typically have significant abnormalities in the shape and structure of the nose, which may include a wide or bifid (split) nasal bridge, widely spaced eyes (hypertelorism), and other midline facial differences. These features are present at birth and result from abnormal development of the facial structures during pregnancy. Because craniorhiny is s

At what age does Craniorhiny typically begin?

Typical onset of Craniorhiny is neonatal. Age of onset can vary across affected individuals.