Overview
Pelvis-shoulder dysplasia, also known as Kosenow syndrome or coxa vara with progressive pelvic and shoulder girdle abnormalities, is an extremely rare inherited skeletal disorder that primarily affects the bones of the pelvis and shoulder areas. The condition is characterized by abnormal development (dysplasia) of the bones that form the pelvic girdle and the shoulder girdle. People with this condition typically have hip problems such as coxa vara (where the angle of the thigh bone at the hip is reduced), which can cause difficulty walking and a waddling gait. The shoulder bones may also be underdeveloped or abnormally shaped, leading to limited arm movement and weakness in the upper body. Symptoms usually become apparent in childhood as the child grows and begins to walk. The severity can vary from person to person. Some individuals may have mild skeletal changes, while others experience more significant mobility limitations. Additional features may include short stature and other skeletal anomalies. There is currently no cure for pelvis-shoulder dysplasia. Treatment focuses on managing symptoms and improving quality of life. Orthopedic interventions, including physical therapy and sometimes corrective surgery for hip or shoulder problems, are the main approaches. Regular monitoring by specialists helps track bone development and address complications as they arise. Because this condition is so rare, treatment plans are often individualized based on each patient's specific needs.
Also known as:
Key symptoms:
Abnormal hip angle causing a waddling walkLimited movement in the shouldersHip pain or stiffnessShort statureUnderdeveloped pelvic bonesUnderdeveloped shoulder bonesDifficulty walking or limpingMuscle weakness around the hips and shouldersDelayed motor milestonesJoint stiffnessLeg length differences
Clinical phenotype terms (41)— hover any for plain English
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 Pelvis-shoulder dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Pelvis-shoulder 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 Pelvis-shoulder 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
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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.How severe is the skeletal involvement in my child's case, and what can we expect as they grow?,Will my child need surgery to correct hip or shoulder problems?,What physical therapy exercises are most helpful for maintaining mobility?,Is genetic testing available to confirm the diagnosis or help with family planning?,Are there any activities my child should avoid to protect their joints?,How often should we schedule follow-up imaging and orthopedic visits?,What is the chance that other family members could be affected?
Common questions about Pelvis-shoulder dysplasia
What is Pelvis-shoulder dysplasia?
Pelvis-shoulder dysplasia, also known as Kosenow syndrome or coxa vara with progressive pelvic and shoulder girdle abnormalities, is an extremely rare inherited skeletal disorder that primarily affects the bones of the pelvis and shoulder areas. The condition is characterized by abnormal development (dysplasia) of the bones that form the pelvic girdle and the shoulder girdle. People with this condition typically have hip problems such as coxa vara (where the angle of the thigh bone at the hip is reduced), which can cause difficulty walking and a waddling gait. The shoulder bones may also be un
How is Pelvis-shoulder dysplasia inherited?
Pelvis-shoulder dysplasia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pelvis-shoulder dysplasia typically begin?
Typical onset of Pelvis-shoulder dysplasia is childhood. Age of onset can vary across affected individuals.