Overview
Cleidorhizomelic syndrome is an extremely rare skeletal disorder that affects bone development. The name describes its key features: 'cleido' refers to the clavicles (collarbones), and 'rhizomelic' refers to the bones closest to the body in the arms and legs (the upper arms and thighs). People with this condition are born with absent or underdeveloped collarbones and shortened upper limbs, particularly affecting the humerus (upper arm bone) and femur (thigh bone). This pattern of bone shortening is called rhizomelic shortening because it primarily affects the proximal (closer to the body) segments of the limbs. The condition is present from birth and can be identified through physical examination and skeletal X-rays. Affected individuals may have a characteristic appearance with narrow or drooping shoulders due to the collarbone abnormalities, and disproportionately short upper arms and thighs compared to the forearms and lower legs. Additional skeletal findings may include other bone abnormalities. Because this syndrome is so rare, with very few cases described in the medical literature, the treatment landscape is limited to supportive and symptomatic care. There is no specific cure or targeted therapy. Management typically involves orthopedic monitoring, physical therapy, and addressing any functional limitations that arise from the skeletal differences. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Key symptoms:
Absent or underdeveloped collarbonesShortened upper arm bonesShortened thigh bonesDrooping or narrow shouldersShort statureDisproportionate limb shortening affecting upper arms and thighs more than forearms and lower legsPossible wrist or hand bone abnormalitiesLimited range of motion in affected jointsAbnormal gait or walking pattern
Clinical phenotype terms (7)— hover any for plain English
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 Cleidorhizomelic syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cleidorhizomelic 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 Cleidorhizomelic syndrome.
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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.What specific bones are affected in my child, and how might this change as they grow?,Should we pursue genetic testing to identify the exact cause, and would this help other family members?,What physical therapy or occupational therapy programs would be most helpful?,Are there any complications we should watch for as my child gets older?,What is the expected adult height, and are there any growth-related treatments to consider?,How can we best support my child's participation in school and physical activities?,What is the chance of this condition occurring again in future pregnancies?
Common questions about Cleidorhizomelic syndrome
What is Cleidorhizomelic syndrome?
Cleidorhizomelic syndrome is an extremely rare skeletal disorder that affects bone development. The name describes its key features: 'cleido' refers to the clavicles (collarbones), and 'rhizomelic' refers to the bones closest to the body in the arms and legs (the upper arms and thighs). People with this condition are born with absent or underdeveloped collarbones and shortened upper limbs, particularly affecting the humerus (upper arm bone) and femur (thigh bone). This pattern of bone shortening is called rhizomelic shortening because it primarily affects the proximal (closer to the body) segm
How is Cleidorhizomelic syndrome inherited?
Cleidorhizomelic syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cleidorhizomelic syndrome typically begin?
Typical onset of Cleidorhizomelic syndrome is neonatal. Age of onset can vary across affected individuals.