Overview
ACAN-related skeletal dysplasia refers to a group of bone and cartilage growth disorders caused by changes (mutations) in the ACAN gene. This entry has been marked as 'obsolete' in Orphanet, meaning it has been retired or reclassified into more specific disease categories. The ACAN gene provides instructions for making aggrecan, a protein that is essential for normal cartilage and bone development. When this gene does not work properly, it can lead to problems with how bones grow and develop, resulting in short stature and joint issues. People with ACAN-related conditions may experience short stature that becomes noticeable in childhood, early-onset joint problems (osteoarthritis), and advanced bone age, meaning their bones mature faster than expected. Some individuals also have features of osteochondritis dissecans, where pieces of cartilage and bone can break loose in a joint. The severity can vary widely, even within the same family. Treatment is mainly supportive and may include growth hormone therapy to help with short stature, orthopedic management for joint problems, and monitoring for early arthritis. Because this Orphanet entry is now obsolete, patients and families should look for the more specific current classifications, such as spondyloepiphyseal dysplasia (aggrecan type), short stature due to ACAN variants, or familial osteochondritis dissecans, depending on their particular symptoms.
Key symptoms:
Short statureEarly-onset arthritis in the jointsAdvanced bone age (bones mature faster than normal)Joint pain and stiffnessOsteochondritis dissecans (cartilage and bone fragments in joints)Broad, short hands or fingersMidface flatteningEarly disc degeneration in the spineReduced joint range of motionLeg length differencesKnee or ankle swelling
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: ACAN-related skeletal dysplasia.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: ACAN-related 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: ACAN-related skeletal dysplasia.
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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 specific type of ACAN-related condition does my child have?,Would growth hormone therapy be helpful, and what results can we expect?,How often should we monitor bone age and joint health?,What physical activities are safe, and which should be avoided?,At what point should we consider orthopedic surgery for joint problems?,Are other family members at risk and should they be tested?,What is the long-term outlook for joint health and mobility?
Common questions about OBSOLETE: ACAN-related skeletal dysplasia
What is OBSOLETE: ACAN-related skeletal dysplasia?
ACAN-related skeletal dysplasia refers to a group of bone and cartilage growth disorders caused by changes (mutations) in the ACAN gene. This entry has been marked as 'obsolete' in Orphanet, meaning it has been retired or reclassified into more specific disease categories. The ACAN gene provides instructions for making aggrecan, a protein that is essential for normal cartilage and bone development. When this gene does not work properly, it can lead to problems with how bones grow and develop, resulting in short stature and joint issues. People with ACAN-related conditions may experience short
How is OBSOLETE: ACAN-related skeletal dysplasia inherited?
OBSOLETE: ACAN-related skeletal dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: ACAN-related skeletal dysplasia typically begin?
Typical onset of OBSOLETE: ACAN-related skeletal dysplasia is childhood. Age of onset can vary across affected individuals.