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  • Updated 06.01.2020
  • Released 01.21.1998
  • Expires For CME 06.01.2023

Cerebro-oculo-facio-skeletal syndrome

Introduction

This article includes discussion of cerebro-oculo-facio-skeletal syndrome, cataracts-microcephaly-kyphosis-limited joint movement, COFS, and Pena-Shokeir II syndrome. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

In this article, the author updates information on cerebro-oculo-facio-skeletal (COFS) syndrome. The condition is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, cerebral and cerebellar degeneration with calcification in basal ganglia and white matter, progressive joint contractures and wasting, and death in infancy or early childhood. In many instances, the disorder results from a mutation in the Cockayne syndrome group B (ERCC6/CSB) gene or xeroderma pigmentosum (ie, DNA repair) genes (ERCC2/XPD, ERCC5/XPG, ERCC1/XPF, or ERCC4), mirroring phenotypic and clinical similarities between these conditions.

Key points

• Cerebro-oculo-facio-skeletal syndrome is rare, with autosomal recessive inheritance, and manifests abnormal facies, ocular changes (eg, cataracts, retinal degeneration, microcornea, optic atrophy), in utero and postnatal growth retardation, severe psychomotor retardation, microcephaly with cerebral and cerebellar degeneration and calcification in basal ganglia and white matter, arthrogryposis with progressive joint contractures and wasting, and death in infancy or early childhood.

• The disorder results from a mutation in 1 of a number of genes, to date the Cockayne syndrome group B (ERCC6/CSB) gene or xeroderma pigmentosum (DNA repair) genes (ERCC2/XPD, ERCC5/XPG, ERCC1/XPF), reflecting phenotypic and clinical similarities between these conditions.

Historical note and terminology

Cerebro-oculo-facio-skeletal syndrome was first described by Pena and Shokeir in 1974. They identified 10 children, 9 of whom were from 2 families of North American aboriginal background residing in or near the province of Manitoba, Canada, with a uniform constellation of congenital abnormalities. On the basis of the apparent heredity and affected systems they entitled their paper “Autosomal recessive cerebro-oculo-facio-skeletal syndrome” (44). This designation has been generally accepted. Since then, numerous case reports have dealt largely with clinical aspects of the disorder and its possible relationship to other disorders. A search for the molecular pathogenesis of the disorder advanced significantly in 1996, when XPF was cloned (18). The ERCC (excision repair cross complementation) and XP (xeroderma pigmentosum) genes function as complexes that are essential to the repair of DNA (damaged by ultraviolet light, carcinogens, or mutagens) and, hence, are shown together in texts (29; 09).

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