Overview
Skeletal dysplasia-epilepsy-short stature syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the bones, brain, and growth. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:1858). People with this condition typically have abnormal bone development (skeletal dysplasia), which can cause unusual bone shapes and joint problems. They also experience seizures (epilepsy) that may begin in childhood, along with significantly shorter height than expected for their age and family. Some individuals may also have intellectual disability or developmental delays. Because this syndrome is so rare, only a handful of cases have been described in the medical literature. The exact genetic cause has not been fully established, and much of what is known comes from individual case reports. Diagnosis is usually based on the combination of clinical features — skeletal abnormalities seen on X-rays, a history of seizures, and short stature — along with genetic evaluation to rule out other conditions. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. Anti-seizure medications are used to control epilepsy, orthopedic care may be needed for bone and joint problems, and growth monitoring is important throughout childhood. A team of specialists working together provides the best care for affected individuals.
Also known as:
Key symptoms:
Short stature or growth failureSeizures or epilepsyAbnormal bone developmentUnusual bone shapes visible on X-raysJoint stiffness or limited joint movementDelayed development or intellectual disabilityAbnormal curvature of the spineShort limbs relative to the bodyDelayed motor milestones such as walkingFacial features that may appear different from family members
Clinical phenotype terms (15)— hover any for plain English
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Skeletal dysplasia-epilepsy-short stature syndrome.
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Specialists
View all specialists →No specialists are currently listed for Skeletal dysplasia-epilepsy-short stature 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 Skeletal dysplasia-epilepsy-short stature syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 type of seizures does my child have, and what is the best medication to control them?,Are there any skeletal problems that need orthopedic treatment now or in the future?,Should we pursue genetic testing, and what might the results tell us?,Is growth hormone therapy an option for my child's short stature?,What developmental therapies or educational supports do you recommend?,How often should we schedule follow-up visits with each specialist?,Are there any clinical trials or research studies we could participate in?
Common questions about Skeletal dysplasia-epilepsy-short stature syndrome
What is Skeletal dysplasia-epilepsy-short stature syndrome?
Skeletal dysplasia-epilepsy-short stature syndrome is an extremely rare genetic condition that affects multiple body systems, primarily the bones, brain, and growth. This syndrome is sometimes referred to by its Orphanet designation (ORPHA:1858). People with this condition typically have abnormal bone development (skeletal dysplasia), which can cause unusual bone shapes and joint problems. They also experience seizures (epilepsy) that may begin in childhood, along with significantly shorter height than expected for their age and family. Some individuals may also have intellectual disability or
At what age does Skeletal dysplasia-epilepsy-short stature syndrome typically begin?
Typical onset of Skeletal dysplasia-epilepsy-short stature syndrome is childhood. Age of onset can vary across affected individuals.