von Voss-Cherstvoy syndrome
MONDO:0009121Mondo
Findings
No curated finding names von Voss-Cherstvoy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
Definition from the Mondo Disease Ontology (MONDO:0009121), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/hypoplasia involving bones of the upper limbsHPOHP:0006496
- Very frequent (80% to 99% of cases)
- Occipital encephaloceleHPOHP:0002085
- Very frequent (80% to 99% of cases)
- ThrombocytopeniaHPOHP:0001873
- Very frequent (80% to 99% of cases)
- Upper limb phocomeliaHPOHP:0009813
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
- Abnormality of the urinary systemHPOHP:0000079
- Occasional (5% to 29% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Occasional (5% to 29% of cases)
Show the remaining 11
- Arachnoid cystHPOHP:0100702
- Occasional (5% to 29% of cases)
- Choanal atresiaHPOHP:0000453
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Hydrocele testisHPOHP:0000034
- Occasional (5% to 29% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: von Voss-Cherstvoy syndrome
- Also called
- DK phocomelia syndromephocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome