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Cerebro Oculo Facio Skeletal Syndrome

Abstract

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Synonyms of Cerebro Oculo Facio Skeletal Syndrome

  • Cerebrooculofacioskeletal Syndrome
  • Cockayne Syndrome type II
  • COFS Syndrome
  • Pena Shokeir II Syndrome
  • Pena Shokeir Syndrome Type II

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Cerebro-oculo-facio-skeletal (COFS) syndrome is a genetic degenerative disorder of the brain and spinal cord that begins before birth. The disorder is characterized by growth failure at birth and little or no neurological development, structural abnormalities of the eye and fixed bending of the spine and joints. Abnormalities of the skull, face, limbs and other parts of the body may also occur. COFS syndrome is inherited as an autosomal recessive genetic trait. COFS is now considered to be part of the spectrum of disorders within Cockayne syndrome.

Organizations related to Cerebro Oculo Facio Skeletal Syndrome

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