von Voss-Cherstvoy syndrome
MeSH: C565618ORPHA: 3439
Overview
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with von Voss-Cherstvoy syndrome, sourced from HPO and Orphanet clinical annotations.
ThrombocytopeniaOccipital encephaloceleAplasia/hypoplasia involving bones of the upper limbsUpper limb phocomeliaDelayed speech and language developmentGlobal developmental delaySpecific learning disabilityAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the corpus callosumCryptorchidismHydrocele testisHypogonadotropic hypogonadismHypospadiasMicropenisAmbiguous genitaliaAbnormality of the urinary systemChoanal atresiaTooth malpositionSeizureAbnormal heart morphologyScoliosisKyphosisArachnoid cyst
Classification & Codes
MeSH Code
C565618Orphanet Code
ORPHA:3439von Voss-Cherstvoy syndrome
| MeSH | C565618 |
| Orphanet | ORPHA:3439 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO