chondrodysplasia-pseudohermaphroditism syndrome

info · Syndrome

A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.

Signs and symptoms

Severe short stature
Elevated circulating creatine kinase activity
Microcephaly
Micromelia
Upslanted palpebral fissure
Distal clavicular thinning
Bell-shaped thorax
Hypoplasia of the iris
Male pseudohermaphroditism
Narrow chest

Also known as: Nivelon-Nivelon-Mabille syndrome; chondrodysplasia-disorder of sex development syndrome