Living with Cleidorhizomelic syndrome
A very rare bone condition with short upper arms and legs and differences in the collarbones, reported in one family.
Understanding Cleidorhizomelic syndrome
People also have short fingers with curved little fingers. X-rays show a Y-shaped or split outer collarbone. It has been reported in one family (a mother and son) and is suspected to be autosomal dominant. GARD says there have been no new descriptions in the medical literature since 1988. It lists onset at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms and thighs (rhizomelia)
- Differences in the collarbone
- Short fingers or toes
- Curved little fingers
- Short middle bone of the little finger
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says it is suspected to be passed on in an autosomal dominant way, so one changed copy of a gene may be enough. It doesn't name a gene.
Also known as: rhizomelic shortness with clavicular defect; wallis zieff goldblatt syndrome; wallis-zieff-goldblatt syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cleidorhizomelic syndrome.
Explore research for Cleidorhizomelic syndrome
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- Eligibility is confirmed by the study team
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