Overview
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome is a very rare genetic condition that affects several parts of the body at the same time. It is sometimes referred to by the shorthand 'MRSRD syndrome' or by its Orphanet code 440354. The condition is caused by a change (variant) in a single gene and can be passed down through families. The syndrome mainly affects the eyes, face, hearing, and bones. People with this condition tend to have severe nearsightedness (myopia), meaning they have difficulty seeing things far away. The middle part of the face may appear flattened or pushed back, which doctors call midfacial retrusion. Hearing loss caused by damage to the inner ear or hearing nerve (sensorineural hearing loss) is also a core feature. In addition, the upper arm and thigh bones are shorter than usual compared to the rest of the body, a pattern called rhizomelic dysplasia. There is currently no cure for this syndrome. Treatment focuses on managing each symptom separately. This may include glasses or contact lenses for nearsightedness, hearing aids or cochlear implants for hearing loss, and orthopedic care for bone differences. A team of specialists working together gives patients the best support. Early diagnosis is important so that children can get the right help as soon as possible.
Also known as:
Key symptoms:
Severe nearsightedness (difficulty seeing things far away)Flattened or pushed-back appearance of the middle of the faceHearing loss caused by inner ear or nerve damage (sensorineural hearing loss)Shorter upper arm bones compared to the rest of the bodyShorter thigh bones compared to the rest of the bodyOverall shorter statureDistinctive facial features including a flat nasal bridge
Clinical phenotype terms (19)— 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 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia 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 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia 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.Which gene caused this condition in my child, and what does that mean for other family members?,What specialists should be part of my child's care team, and how often should we see each one?,What are the best options for managing my child's hearing loss at this age?,How severe is the nearsightedness likely to become, and what are the risks to long-term vision?,Are there any clinical trials or research studies we could participate in?,What signs should prompt me to seek urgent medical attention?,Are there patient communities or support groups for families affected by this syndrome?
Common questions about Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
What is Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome?
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome is a very rare genetic condition that affects several parts of the body at the same time. It is sometimes referred to by the shorthand 'MRSRD syndrome' or by its Orphanet code 440354. The condition is caused by a change (variant) in a single gene and can be passed down through families. The syndrome mainly affects the eyes, face, hearing, and bones. People with this condition tend to have severe nearsightedness (myopia), meaning they have difficulty seeing things far away. The middle part of
How is Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome inherited?
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome typically begin?
Typical onset of Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.