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.

Epidemiology

Less than 15 cases have been reported.

Clinical description

The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal.

Etiology

Pathogenesis and cause of this syndrome are unknown.

Genetic counseling

Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.