Phaver Syndrome

Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.

Epidemiology

It has been described in two sibs. One of the sibs also had a myelomeningocele.

Genetic counseling

The reported cases suggest the condition is hereditary with probable autosomal recessive inheritance.