SCARF syndrome

Overview

Type of disease: Rare conditions

In 1989, Kappe et al described 2 male maternal first cousins with an apparently 'new' syndrome including lax skin, joint hyperextensibility, umbilical and inguinal hernias, craniosynostosis, pectus carinatum, abnormally shaped vertebrae, enamel hypoplasia with hypocalcification of the teeth, facial abnormalities, wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. Some of the features suggest those of the Lenz-Majewski hyperostotic dwarfism syndrome. Inheritance is believed to be X-linked recessive.

Connect. Empower. Inspire.