Living with Von Voss-Cherstvoy syndrome
A very rare condition present at birth with short or missing arms, brain differences, and low platelets.
Understanding Von Voss-Cherstvoy syndrome
GARD lists shortened or absent arms (phocomelia), an encephalocele (brain tissue pushing through an opening in the skull), brain and urogenital differences, and low platelets (thrombocytopenia). Intellectual development is usually normal. As of May 2010, fewer than 15 cases had been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short or missing arms (phocomelia)
- Underdeveloped forearm bone (radius)
- Brain tissue pushing out the back of the skull
- Missing or small brain connection (corpus callosum)
- Low platelet count
- Developmental and speech delay
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 the exact cause is unknown, but autosomal recessive inheritance has been suggested.
Also known as: dk phocomelia syndrome; phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome; phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome; phocomelia, thrombocytopenia, encephalocele, urogenital malformations
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 Von Voss-Cherstvoy syndrome.
Explore research for Von Voss-Cherstvoy syndrome
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