Overview
Epimetaphyseal skeletal dysplasia is an extremely rare bone disorder that affects the growth and development of bones, specifically at the ends of long bones (epiphyses) and the areas just below them (metaphyses). This condition is now classified as 'obsolete' in medical databases, meaning it has likely been reclassified or merged into other more precisely defined skeletal dysplasia categories as our understanding of bone disorders has improved over time. Patients with this type of skeletal dysplasia typically experience abnormal bone growth that can lead to short stature, joint problems, and skeletal deformities. The bones may appear irregular on X-rays, particularly around the joints of the arms and legs. Because this is an obsolete classification, patients who were previously diagnosed with this condition may now fall under a more specific diagnosis based on modern genetic testing and updated classification systems. Treatment has generally been supportive, focusing on managing symptoms such as pain, mobility issues, and skeletal complications. Orthopedic interventions, physical therapy, and regular monitoring of bone growth are common approaches. If you or a family member received this diagnosis, it is strongly recommended to seek re-evaluation by a clinical geneticist who can apply current diagnostic criteria and potentially identify a more precise underlying condition.
Key symptoms:
Short statureJoint stiffness or limited range of motionAbnormal bone shape visible on X-raysBowed legs or knock kneesPain in the joints or limbsWaddling gait or difficulty walkingIrregular growth of long bonesSkeletal deformitiesEarly-onset arthritis or joint wear
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
2 eventsKarolinska Institutet — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Epimetaphyseal skeletal dysplasia.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Epimetaphyseal skeletal dysplasia.
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 OBSOLETE: Epimetaphyseal skeletal dysplasia.
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.Is my diagnosis still classified as epimetaphyseal skeletal dysplasia, or has it been reclassified under a more current diagnosis?,Would genetic testing help identify the specific cause of my condition?,What monitoring or imaging should be done regularly to track bone and joint health?,Are there any physical activities I should avoid to protect my joints?,What treatment options are available to manage pain and improve mobility?,Should I be referred to a specialized skeletal dysplasia center for re-evaluation?,Are there any clinical trials or new therapies being studied for my condition?
Common questions about OBSOLETE: Epimetaphyseal skeletal dysplasia
What is OBSOLETE: Epimetaphyseal skeletal dysplasia?
Epimetaphyseal skeletal dysplasia is an extremely rare bone disorder that affects the growth and development of bones, specifically at the ends of long bones (epiphyses) and the areas just below them (metaphyses). This condition is now classified as 'obsolete' in medical databases, meaning it has likely been reclassified or merged into other more precisely defined skeletal dysplasia categories as our understanding of bone disorders has improved over time. Patients with this type of skeletal dysplasia typically experience abnormal bone growth that can lead to short stature, joint problems, and
At what age does OBSOLETE: Epimetaphyseal skeletal dysplasia typically begin?
Typical onset of OBSOLETE: Epimetaphyseal skeletal dysplasia is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for OBSOLETE: Epimetaphyseal skeletal dysplasia?
Yes — 2 recruiting clinical trials are currently listed for OBSOLETE: Epimetaphyseal skeletal dysplasia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.