Overview
SIX2-related frontonasal dysplasia is a rare genetic condition that affects the development of the face, particularly the area around the nose, forehead, and eyes. It is caused by changes (variants) in the SIX2 gene, which plays an important role in how the face forms before birth. The condition belongs to a broader group of disorders called frontonasal dysplasias, which all involve differences in how the middle part of the face develops. People with this condition are typically born with visible differences in the structure of their face. These can include a wide or split nose, a broad forehead, widely spaced eyes, and sometimes clefts or gaps in the skin or tissue of the nose and surrounding area. Some individuals may also have differences in the eyelids or the area between the eyes. The severity of these features can vary from person to person, even within the same family. There is currently no cure for SIX2-related frontonasal dysplasia. Treatment focuses on managing the physical features and any related complications. This often involves surgery to repair facial differences, as well as support from a team of specialists including plastic surgeons, ophthalmologists, and speech therapists. Early intervention and a coordinated care team can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Wide or split nose (bifid nose)Broad or prominent foreheadWidely spaced eyes (hypertelorism)Differences in the shape or structure of the nose tipNotching or clefting of the skin between the nose and foreheadAbnormal eyelid shape or positionDifferences in the area between the eyes (nasal bridge)Possible skin tags or extra tissue near the nose or eyesAsymmetry of facial features
Clinical phenotype terms (22)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for SIX2-related frontonasal dysplasia.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for SIX2-related frontonasal dysplasia.
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 SIX2-related frontonasal dysplasia.
Community
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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 change was found in the SIX2 gene, and what does it mean for my child's health?,What surgeries might my child need, and when would they typically happen?,Are there any risks to my child's vision or breathing that I should watch for right now?,Should other family members be tested for this condition?,What therapies (speech, developmental) should we start, and how soon?,Is there a craniofacial team or specialist center you would recommend for ongoing care?,Are there any clinical trials or research studies we could consider joining?
Common questions about SIX2-related frontonasal dysplasia
What is SIX2-related frontonasal dysplasia?
SIX2-related frontonasal dysplasia is a rare genetic condition that affects the development of the face, particularly the area around the nose, forehead, and eyes. It is caused by changes (variants) in the SIX2 gene, which plays an important role in how the face forms before birth. The condition belongs to a broader group of disorders called frontonasal dysplasias, which all involve differences in how the middle part of the face develops. People with this condition are typically born with visible differences in the structure of their face. These can include a wide or split nose, a broad foreh
How is SIX2-related frontonasal dysplasia inherited?
SIX2-related frontonasal dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SIX2-related frontonasal dysplasia typically begin?
Typical onset of SIX2-related frontonasal dysplasia is neonatal. Age of onset can vary across affected individuals.