Search for a rare disease
Other search option(s)
Von Voss-Cherstvoy syndrome
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
ORPHA:3439Classification level: Disorder
Less than 15 cases have been reported.
The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal.
Pathogenesis and cause of this syndrome are unknown.
Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.