Overview
Spondyloepimetaphyseal dysplasia with abnormal dentition (SEMD-AD) is an extremely rare genetic bone disorder that affects the growth and development of the spine, the ends of long bones (epiphyses), and the areas near the growth plates (metaphyses). The name describes where the skeletal problems occur: "spondylo" refers to the spine, "epi" to the ends of bones, and "metaphyseal" to the region near the growth plates. In addition to these bone abnormalities, people with this condition have distinctive dental problems, including abnormally shaped or missing teeth. Children with this condition typically show signs of short stature early in life, along with skeletal abnormalities that can be seen on X-rays. The spine may show flattened vertebrae (platyspondyly), and the long bones of the arms and legs may appear irregular. Joint problems, including stiffness or limited range of motion, can also occur. The dental abnormalities may include small teeth, widely spaced teeth, or teeth that are unusually shaped. Because this is such a rare condition, treatment is mainly supportive and focused on managing symptoms. Orthopedic care can help address bone and joint problems, while dental specialists can manage the tooth abnormalities. There is currently no cure or disease-specific therapy available. Regular monitoring by a team of specialists is important to address complications as they arise and to support the best possible quality of life.
Also known as:
Key symptoms:
Short statureAbnormally shaped or missing teethFlattened spinal vertebraeBowed legs or knock kneesJoint stiffness or limited movementIrregular shape of long bones on X-rayDelayed bone developmentWaddling gait or difficulty walkingShort limbs relative to the trunkDental crowding or widely spaced teethBack pain or spinal curvature
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 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spondyloepimetaphyseal dysplasia-abnormal dentition 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 Spondyloepimetaphyseal dysplasia-abnormal dentition 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 specific skeletal changes does my child have, and how might they progress over time?,Should we pursue genetic testing, and what type of test is most appropriate?,What dental treatments are recommended, and when should they begin?,Are there any physical activities my child should avoid to protect their joints and spine?,How often should we schedule follow-up X-rays and specialist visits?,Is growth hormone therapy an option, and would it be effective for this condition?,Are there any warning signs of complications I should watch for at home?
Common questions about Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
What is Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome?
Spondyloepimetaphyseal dysplasia with abnormal dentition (SEMD-AD) is an extremely rare genetic bone disorder that affects the growth and development of the spine, the ends of long bones (epiphyses), and the areas near the growth plates (metaphyses). The name describes where the skeletal problems occur: "spondylo" refers to the spine, "epi" to the ends of bones, and "metaphyseal" to the region near the growth plates. In addition to these bone abnormalities, people with this condition have distinctive dental problems, including abnormally shaped or missing teeth. Children with this condition t
How is Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome inherited?
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome typically begin?
Typical onset of Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is childhood. Age of onset can vary across affected individuals.