Overview
Velo-facial-skeletal syndrome, also sometimes referred to as Velo-facial-skeletal dysplasia, is an extremely rare genetic condition that affects multiple body systems, particularly the palate (the roof of the mouth), the face, and the skeleton. The name reflects the three main areas involved: 'velo' refers to the soft palate (velum), 'facial' refers to distinctive facial features, and 'skeletal' refers to bone and joint abnormalities. People with this condition may have a cleft palate or a high-arched palate, unusual facial features such as a flat midface, a small jaw, or widely spaced eyes, and various skeletal problems including short stature, joint looseness, and abnormalities of the spine or limbs. Some individuals may also experience speech difficulties related to palate problems, hearing issues, and mild developmental delays. Because this syndrome is so rare, there is no specific cure. Treatment focuses on managing individual symptoms. This may include surgery to repair a cleft palate, speech therapy, orthopedic care for skeletal problems, and regular monitoring by a team of specialists. Early intervention and coordinated care can significantly improve quality of life for affected individuals.
Key symptoms:
Cleft palate or high-arched palateDistinctive facial featuresShort statureSmall jaw (micrognathia)Loose or overly flexible jointsFlat midfaceWidely spaced eyesSpine abnormalitiesLimb or bone abnormalitiesSpeech difficultiesHearing problemsFeeding difficulties in infancyMild developmental delays
Clinical phenotype terms (18)— 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 Velo-facial-skeletal syndrome.
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Specialists
View all specialists →No specialists are currently listed for Velo-facial-skeletal 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 Velo-facial-skeletal 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
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 features of this syndrome does my child have, and how severe are they?,When should cleft palate repair surgery be done, and what can we expect from recovery?,What genetic testing would you recommend for our family?,How often should my child have hearing and vision screenings?,What therapies (speech, physical, occupational) should we start, and when?,Are there any skeletal problems we need to monitor as my child grows?,Can you connect us with other families or support groups for rare craniofacial or skeletal conditions?
Common questions about Velo-facial-skeletal syndrome
What is Velo-facial-skeletal syndrome?
Velo-facial-skeletal syndrome, also sometimes referred to as Velo-facial-skeletal dysplasia, is an extremely rare genetic condition that affects multiple body systems, particularly the palate (the roof of the mouth), the face, and the skeleton. The name reflects the three main areas involved: 'velo' refers to the soft palate (velum), 'facial' refers to distinctive facial features, and 'skeletal' refers to bone and joint abnormalities. People with this condition may have a cleft palate or a high-arched palate, unusual facial features such as a flat midface, a small jaw, or widely spaced eyes,
How is Velo-facial-skeletal syndrome inherited?
Velo-facial-skeletal syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Velo-facial-skeletal syndrome typically begin?
Typical onset of Velo-facial-skeletal syndrome is neonatal. Age of onset can vary across affected individuals.