Overview
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type, is an extremely rare inherited bone disorder that affects the development of the spine and the ends of long bones (called metaphyses). This condition belongs to a group of skeletal disorders known as spondylometaphyseal dysplasias. It was first described by Dr. Mégarbané and colleagues. Affected individuals typically show signs at birth or in early infancy, including severe short stature, shortened limbs, and abnormalities of the spine such as flattened vertebrae (platyspondyly). The metaphyses of the long bones appear widened and irregular on X-rays. Additional features may include a short trunk, bowed legs, waddling gait, and joint limitations. Some patients may also have facial features such as a flat midface. Because this condition is so rare, with only a handful of cases reported in the medical literature, the full range of symptoms and long-term outcomes are not yet completely understood. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting mobility, and monitoring bone and joint health through a team of specialists including orthopedic surgeons, geneticists, and physical therapists. Early intervention and supportive care can help improve quality of life.
Key symptoms:
Severe short statureShort trunkShortened limbsFlattened vertebrae visible on X-rayWidened and irregular ends of long bonesBowed legsWaddling gaitLimited joint movementFlat midfaceDelayed motor milestonesChest abnormalitiesSpinal curvature or deformity
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type.
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Specialists
View all specialists →No specialists are currently listed for Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type.
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 recessive spondylometaphyseal dysplasia, Mégarbané type.
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 genetic mutation does my child have, and what does it mean for their health?,How often should we have skeletal X-rays and orthopedic check-ups?,Are there any physical activities my child should avoid to protect their bones and joints?,What therapies (physical, occupational) do you recommend, and how often?,Should we be concerned about spinal cord compression, and what signs should we watch for?,Are there any clinical trials or research studies we could participate in?,What school or workplace accommodations should we request?
Common questions about Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
What is Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type?
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type, is an extremely rare inherited bone disorder that affects the development of the spine and the ends of long bones (called metaphyses). This condition belongs to a group of skeletal disorders known as spondylometaphyseal dysplasias. It was first described by Dr. Mégarbané and colleagues. Affected individuals typically show signs at birth or in early infancy, including severe short stature, shortened limbs, and abnormalities of the spine such as flattened vertebrae (platyspondyly). The metaphyses of the long bones appear widened
How is Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type inherited?
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type typically begin?
Typical onset of Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is neonatal. Age of onset can vary across affected individuals.