Overview
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome have a combination of unusual facial features (facial dysmorphism), eye problems (ocular anomalies), weakened bones (osteopenia), learning and thinking difficulties (intellectual disability), and dental problems (dental anomalies). The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other distinctive characteristics that become apparent in early childhood. Eye problems can range from structural differences to vision impairment. Osteopenia means the bones are less dense than normal, which can increase the risk of fractures. Intellectual disability can vary in severity but typically affects learning, problem-solving, and daily functioning. Dental anomalies may include abnormally shaped teeth, missing teeth, or delayed tooth eruption. Because this syndrome is so rare, there is very limited published medical literature, and treatment is primarily supportive, focusing on managing each individual symptom. A team of specialists is usually needed to provide comprehensive care. Research into the underlying genetic cause and potential targeted treatments is still in its early stages.
Also known as:
Key symptoms:
Unusual facial featuresEye abnormalities or vision problemsWeak or thin bones (osteopenia)Intellectual disability or learning difficultiesDental abnormalities such as missing or oddly shaped teethDelayed development or developmental milestonesBroad foreheadWidely spaced eyesFlat nasal bridgeShort stature or growth delaysIncreased risk of bone fracturesSpeech and language delays
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies 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 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies 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 tests should be done to confirm the diagnosis and look for a genetic cause?,How severe is the osteopenia, and what can we do to protect the bones?,What type of eye problems are present, and how should they be treated?,What therapies and early intervention services do you recommend?,How often should we schedule follow-up appointments with each specialist?,Are there any clinical trials or research studies we could participate in?,What should we watch for that would require urgent medical attention?
Common questions about Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
What is Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome?
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome is an extremely rare genetic condition that affects multiple body systems. As the name describes, people with this syndrome have a combination of unusual facial features (facial dysmorphism), eye problems (ocular anomalies), weakened bones (osteopenia), learning and thinking difficulties (intellectual disability), and dental problems (dental anomalies). The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and other distinctive characteristics that become appare
How is Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome inherited?
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome typically begin?
Typical onset of Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome is childhood. Age of onset can vary across affected individuals.