Overview
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is an extremely rare genetic condition that affects bone development, brain function, and hearing. It is also sometimes referred to by its Orphanet designation (ORPHA:2502). The condition is characterized by abnormalities in the metaphyses, which are the growing ends of long bones. These bone changes can lead to short stature and skeletal problems. In addition, affected individuals typically have intellectual disability, which can range from mild to moderate, affecting learning and daily functioning. Conductive hearing loss is another hallmark of this syndrome, meaning that sound has difficulty traveling through the outer or middle ear to reach the inner ear. This type of hearing loss can often be helped with hearing aids or sometimes surgery. 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 not completely understood. Management is generally supportive and focuses on addressing each symptom individually. A team of specialists is usually needed to provide the best care, including orthopedic doctors for bone issues, audiologists and ENT specialists for hearing problems, and developmental specialists for intellectual disability. Early intervention with speech therapy, educational support, and hearing aids can make a meaningful difference in quality of life.
Key symptoms:
Short statureAbnormal bone growth at the ends of long bonesIntellectual disabilityConductive hearing lossDelayed speech and language developmentBowed legs or knock kneesWaddling gait or difficulty walkingRecurrent ear infectionsLearning difficultiesSkeletal abnormalities visible on X-rays
Clinical phenotype terms (26)— 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 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome.
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Specialists
View all specialists →No specialists are currently listed for Metaphyseal dysostosis-intellectual disability-conductive deafness 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 Metaphyseal dysostosis-intellectual disability-conductive deafness 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 degree of hearing loss does my child have, and what are the best options to manage it?,Are there specific bone abnormalities we should monitor, and how often should X-rays be done?,What genetic testing is available to help confirm the diagnosis or identify the cause?,What early intervention services should we start right away?,How will this condition affect my child's growth and development over time?,Should other family members be tested or evaluated?,Are there any clinical studies or research programs we could participate in?
Common questions about Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
What is Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome?
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is an extremely rare genetic condition that affects bone development, brain function, and hearing. It is also sometimes referred to by its Orphanet designation (ORPHA:2502). The condition is characterized by abnormalities in the metaphyses, which are the growing ends of long bones. These bone changes can lead to short stature and skeletal problems. In addition, affected individuals typically have intellectual disability, which can range from mild to moderate, affecting learning and daily functioning. Conductive hearing
How is Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome inherited?
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome typically begin?
Typical onset of Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is childhood. Age of onset can vary across affected individuals.