Overview
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is an extremely rare genetic condition that affects bone development, hearing, and facial features. The name describes its three main features: epiphyseal dysplasia (abnormal growth of the ends of bones, which are important for bone lengthening during childhood), hearing loss (usually sensorineural, meaning it involves the inner ear or hearing nerve), and dysmorphism (unusual facial features). Children with this condition may have short stature due to the bone growth problems, and the hearing loss can range from mild to severe. Facial features may include a flat midface, a broad or depressed nasal bridge, and other distinctive characteristics. Joint problems such as stiffness or early-onset arthritis may also develop because of the abnormal bone ends. Because this syndrome is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are still being understood. Currently, there is no cure, and treatment focuses on managing individual symptoms such as hearing aids for hearing loss, orthopedic care for bone and joint problems, and supportive therapies to help with development and daily functioning.
Key symptoms:
Short statureHearing lossUnusual facial featuresFlat or broad nasal bridgeAbnormal bone growth at the ends of long bonesJoint stiffness or painDelayed bone development seen on X-raysFlat midfaceWaddling gait or difficulty walkingEarly-onset joint wear and tear
Clinical phenotype terms (25)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Epiphyseal dysplasia-hearing loss-dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Epiphyseal dysplasia-hearing loss-dysmorphism 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 Epiphyseal dysplasia-hearing loss-dysmorphism 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 type and severity of hearing loss does my child have, and what hearing devices are recommended?,How will the bone growth problems affect my child's height and joint health over time?,Should we pursue genetic testing, and what type of test is most appropriate?,What therapies — physical therapy, speech therapy — should we start now?,Are there any activities or movements my child should avoid to protect their joints?,How often should we schedule follow-up appointments with each specialist?,Is genetic counseling recommended for our family regarding future pregnancies?
Common questions about Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
What is Epiphyseal dysplasia-hearing loss-dysmorphism syndrome?
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is an extremely rare genetic condition that affects bone development, hearing, and facial features. The name describes its three main features: epiphyseal dysplasia (abnormal growth of the ends of bones, which are important for bone lengthening during childhood), hearing loss (usually sensorineural, meaning it involves the inner ear or hearing nerve), and dysmorphism (unusual facial features). Children with this condition may have short stature due to the bone growth problems, and the hearing loss can range from mild to severe. Facial feat
How is Epiphyseal dysplasia-hearing loss-dysmorphism syndrome inherited?
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epiphyseal dysplasia-hearing loss-dysmorphism syndrome typically begin?
Typical onset of Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.