Overview
Acromesomelic dysplasia, Brahimi-Bacha type, is an extremely rare inherited skeletal disorder that was previously classified under its own Orphanet code (953) but has since been marked as obsolete, meaning it has been reclassified or merged with another recognized form of acromesomelic dysplasia. Acromesomelic dysplasias are a group of conditions that cause short stature due to abnormal growth of the bones, particularly affecting the middle (mesomelic) and end (acromelic) portions of the limbs — meaning the forearms, lower legs, hands, and feet are disproportionately short compared to the rest of the body. The Brahimi-Bacha type was described in a very small number of families and shares many features with other forms of acromesomelic dysplasia, including short fingers and toes, limited joint movement, and noticeably short forearms and lower legs. Because this classification is now obsolete, patients originally given this diagnosis may be reclassified under another form of acromesomelic dysplasia, such as the Maroteaux type, the Hunter-Thompson type, or the Grebe type, depending on their specific genetic findings and clinical features. There is no cure for acromesomelic dysplasias. Treatment focuses on managing symptoms, supporting mobility, and monitoring growth. Orthopedic care and physical therapy are the main approaches to help maintain function and quality of life.
Key symptoms:
Short stature (noticeably shorter than average height)Disproportionately short forearmsDisproportionately short lower legsShort fingers and toes (brachydactyly)Short hands and feetLimited range of motion in jointsBowing of the forearm bonesAbnormal shape of the vertebrae (spine bones)Waddling gait or unusual walking patternJoint stiffnessBroad hands
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 OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha 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 OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha 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.Since this diagnosis is now considered obsolete, what is the current correct name for my condition?,Has genetic testing been done to identify the specific gene causing this condition?,What specialists should be part of my or my child's care team?,Are there any treatments or clinical trials that could help with growth or joint problems?,What accommodations should we request at school or work?,What is the expected adult height, and how will this affect daily life?,If we plan to have more children, what is the chance they will also be affected?
Common questions about OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type
What is OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type?
Acromesomelic dysplasia, Brahimi-Bacha type, is an extremely rare inherited skeletal disorder that was previously classified under its own Orphanet code (953) but has since been marked as obsolete, meaning it has been reclassified or merged with another recognized form of acromesomelic dysplasia. Acromesomelic dysplasias are a group of conditions that cause short stature due to abnormal growth of the bones, particularly affecting the middle (mesomelic) and end (acromelic) portions of the limbs — meaning the forearms, lower legs, hands, and feet are disproportionately short compared to the rest
How is OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type inherited?
OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type typically begin?
Typical onset of OBSOLETE: Acromesomelic dysplasia, Brahimi-Bacha type is neonatal. Age of onset can vary across affected individuals.