Overview
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is an extremely rare congenital condition that affects the development of the face and eyes before birth. The name describes its three main features: frontonasal dysplasia (abnormal development of the forehead and nose area), severe microphthalmia (extremely small or underdeveloped eyes), and severe facial clefting (deep splits or gaps in the structures of the face, including the lip and palate). Children born with this syndrome typically have very noticeable differences in facial structure that are apparent at birth. The eyes may be very small or, in some cases, absent (anophthalmia), leading to significant vision impairment or blindness. The facial clefts can be more extensive than typical cleft lip and palate, sometimes involving the entire midface region. Because this condition affects multiple parts of the face and eyes, it can cause difficulties with breathing, feeding, and speech development. Affected individuals may also experience intellectual disability or developmental delays, though this varies. Treatment is primarily supportive and surgical. Multiple reconstructive surgeries are often needed throughout childhood to repair facial clefts, improve appearance, and restore function for breathing and eating. Eye prosthetics or other interventions may be considered for the eye abnormalities. A team of specialists is essential for managing the many aspects of this complex condition. There is currently no cure, and management focuses on improving quality of life and function through coordinated medical and surgical care.
Key symptoms:
Very small or absent eyesSevere vision loss or blindnessWide split or cleft in the lipCleft palate (opening in the roof of the mouth)Abnormal shape of the nose and foreheadWidely spaced eyesFlat or broad nasal bridgeDifficulty breathing through the noseFeeding difficulties in infancySpeech difficultiesUnusual facial appearancePossible intellectual disabilityDevelopmental delaysPossible hearing problems
Clinical phenotype terms (29)— hover any for plain English
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 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome.
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Specialists
View all specialists →No specialists are currently listed for Frontonasal dysplasia-severe microphthalmia-severe facial clefting 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 Frontonasal dysplasia-severe microphthalmia-severe facial clefting 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 are my child's facial clefts and eye abnormalities, and what surgeries will be needed?,What is the expected timeline for reconstructive surgeries?,Will my child have any usable vision, and what eye care or prosthetics are recommended?,Are there any brain or developmental concerns we should watch for?,What feeding and speech therapies should we start, and when?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,Are there any clinical trials or research studies we should know about?
Common questions about Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
What is Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome?
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is an extremely rare congenital condition that affects the development of the face and eyes before birth. The name describes its three main features: frontonasal dysplasia (abnormal development of the forehead and nose area), severe microphthalmia (extremely small or underdeveloped eyes), and severe facial clefting (deep splits or gaps in the structures of the face, including the lip and palate). Children born with this syndrome typically have very noticeable differences in facial structure that are apparent at birth.
How is Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome inherited?
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome typically begin?
Typical onset of Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is neonatal. Age of onset can vary across affected individuals.