Cerebro Oculo Facio Skeletal Syndrome (COFS)
Ian C. Langtree - Writer/Editor for Disabled World (DW)
Published: 2009/04/01 - Updated: 2023/01/28
Topic: Pediatric Disabilities - Publications List
Page Content: Synopsis - Introduction - Main
Synopsis: Cerebro oculo facio skeletal syndrome is a pediatric genetic degenerative disorder that involves the brain and the spinal cord that begins before birth. COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result partly from a lack of movement.
Introduction
Cerebro-oculo-facio-skeletal syndrome alternate names include: Cockayne Syndrome-Classical Type I, Cockayne Syndrome-Congenital Type II, Pena Shokeir Syndrome Type II.
The U.S. Social Security Administration (SSA) has included Cerebro Oculo Facio Skeletal Syndrome (COFS) as a Compassionate Allowance to expedite a disability claim.
Main Item
NOTE: Cerebro Oculo Facio Skeletal Syndrome is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome)
Cerebro Oculo Facio Skeletal Syndrome is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impaired reflexes. Other findings may include;
- large, low-set ears,
- small eyes,
- microcephaly (abnormal smallness of the head),
- micrognathia (abnormal smallness of the jaws),
- clenched fists,
- wide-set nipples,
- vision impairments,
- involuntary eye movements,
- mental retardation, which can be moderate or severe.
- Respiratory infections are frequent.
A small number of individuals with COFS have a mutation in the "ERCC6" gene and are more appropriately diagnosed with Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes "XPG" or "XPD". Still, others diagnosed with COFS have no identifiable genetic defect and are presumably affected by mutations in a distinct, as-yet-unknown gene.
Types of Cockayne Syndrome
CS Type I
CS Type I is the "classic" form and is characterized by normal fetal growth with the onset of abnormalities in the first two years of life. Vision and hearing gradually decline. The central and peripheral nervous systems progressively degenerate until death in the first or second decade of life due to serious neurological degradation. Cortical atrophy is less severe in CS Type I.
CS Type II
CS Type II is present from birth (congenital) and is much more severe than CS Type 1. It involves very little neurological development after birth. Death usually occurs by age seven. This specific type has also been designated Cerebro-oculo-facio-skeletal (COFS) syndrome or Pena-Shokeir syndrome Type II. COFS syndrome is named so due to its effects on the brain, eyes, face, and skeletal system, as the disease, frequently causes brain atrophy, cataracts, loss of fat in the face, and osteoporosis.
COFS syndrome can be further subdivided into conditions (COFS types 1, 2, 3 (associated with xeroderma pigmentosum) and 4). Typically patients with this early-onset disorder show more severe brain damage, including reduced myelination of white matter, and more widespread calcifications, including in the cortex and basal ganglia.
CS Type III
CS Type III is characterized by late onset and is typically milder than Types I and II. Often patients with Type III will live into adulthood.
Xeroderma Pigmentosum-Cockayne Syndrome (XP-CS)
Xeroderma pigmentosum-Cockayne syndrome (XP-CS) occurs when an individual has xeroderma pigmentosum, another DNA repair disease. Some symptoms of each disease are expressed. For instance, freckling and pigment abnormalities characteristic of XP are present. The neurological disorder, spasticity, and underdevelopment of sexual organs characteristic of CS are seen. However, hypomyelination and the facial features of typical CS patients are not present.
Diagmosis and Treatment
COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result partly from a lack of movement.
Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.
COFS is a fatal disease. Death usually occurs by five years of age.
Author Credentials: Ian was born and grew up in Australia. Since then, he has traveled and lived in numerous locations and currently resides in Montreal, Canada. Ian is the founder, a writer, and editor in chief for Disabled World. Ian believes in the Social Model of Disability, a belief developed by disabled people in the 1970s. The social model changes the focus away from people's impairments and towards removing barriers that disabled people face daily. To learn more about Ian's background, expertise, and achievements, check out his bio.