Overview
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome is an extremely rare genetic skeletal disorder. The name describes its three main features: multiple epiphyseal dysplasia (a problem with the growth plates at the ends of bones), macrocephaly (a larger-than-average head size), and distinctive facial features. This condition primarily affects how bones grow and develop, especially in the joints and skull. Children with this syndrome typically have short stature due to abnormal development of the epiphyses, which are the rounded ends of long bones that are important for growth during childhood. The joints may become stiff or painful, and early-onset arthritis can develop. The larger head size is usually noticeable in infancy or early childhood. Facial features may include a flat midface, a broad forehead, and other subtle differences in facial structure. Because this condition is so rare, treatment is mainly supportive and focused on managing symptoms. Orthopedic care can help address joint problems and skeletal abnormalities. Physical therapy may improve mobility and reduce discomfort. Pain management is important for those who develop joint pain or arthritis. Regular monitoring of growth and development by a team of specialists is recommended. There is currently no cure or disease-specific therapy available for this syndrome.
Also known as:
Key symptoms:
Short statureLarger-than-average head sizeJoint pain or stiffnessDistinctive facial featuresFlat midfaceBroad foreheadAbnormal bone development at the ends of long bonesWaddling gait or difficulty walkingEarly-onset joint wear and tear (arthritis)Delayed motor milestonesLimb shortening or limb length differencesKnee or hip problems
Clinical phenotype terms (22)— 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 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Multiple epiphyseal dysplasia-macrocephaly-facial 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 Multiple epiphyseal dysplasia-macrocephaly-facial 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
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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.What specific genetic testing should be done to confirm the diagnosis?,How often should my child have skeletal X-rays and growth monitoring?,What types of physical activities are safe, and which should be avoided?,Are there signs of joint damage we should watch for at home?,Should we be concerned about the large head size, and does it need monitoring with brain imaging?,What pain management options are appropriate for a child with this condition?,Are there any clinical trials or research studies we could participate in?
Common questions about Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
What is Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome?
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome is an extremely rare genetic skeletal disorder. The name describes its three main features: multiple epiphyseal dysplasia (a problem with the growth plates at the ends of bones), macrocephaly (a larger-than-average head size), and distinctive facial features. This condition primarily affects how bones grow and develop, especially in the joints and skull. Children with this syndrome typically have short stature due to abnormal development of the epiphyses, which are the rounded ends of long bones that are important for grow
How is Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome inherited?
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome typically begin?
Typical onset of Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome is childhood. Age of onset can vary across affected individuals.