Home > Encyclopedia of Genetic Disorders > Beare-Stevenson cutis gyrata syndrome

Definition

Beare-Stevenson Cutis gyrata syndrome is a serious, extremely rare inherited disorder affecting the skin, skull, genitals, navel, and anus. This condition often results in early death.

Description

Beare-Stevenson cutis gyrata syndrome is also known as Beare-Stevenson syndrome and cutis gyrata syndrome of Beare and Stevenson. This very rare inherited disease causes serious physical problems affecting many body parts. Cutis gyrata is characterized by an unusual ridging pattern in the skin resembling corrugation in cardboard. This skin corrugation is present from birth and commonly occurs on the head and arms.

All people with Beare-Stevenson cutis gyrata syndrome are mentally retarded or developmentally delayed. The brain, skull, face, respiratory system, and genitals are...