Cerebro Oculo Facio Skeletal Syndrome (COFS)
Topic: Pediatric Health Concerns
Ian C. Langtree - Content Writer/Editor for Disabled World
Published: 2009/04/01 - Updated: 2023/01/28
Contents: Summary - Definition - Introduction - Main Item - Related Topics
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. A few individuals with COFS mutation in the "ERCC6" gene are more appropriately diagnosed with Cockayne Syndrome Type II.
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.
Explore Related Topics
1 - How to Make a Baby Stop Crying Using Transport Response - Comparing the effects of the transport response, the relaxed reaction while being carried, with motionless maternal holding or rocking and examining if the effects persist with longer carrying in infants.
2 - Coaxing Kids Through Vaccinations: Pain Expectation is Pain Reality for Children - University of California Riverside researchers examine how expectation of pain influences pain experience in children.
3 - Types of Genetic Mutations Associated with Nephrotic Syndrome Identified - By analyzing most common genetic variants scientists aim at improving diagnosis and treatment for nephrotic syndrome which presents high resistance to drugs and relapse in post-transplant scenario.
4 - Siblings of Cot Death Victims Have Four Times SIDS Risk - Researchers calculated incidence of SIDS in younger siblings compared to the general population and found younger siblings of SIDS victims had four-fold increased risk of SIDS compared to the general population.
5 - Jaundice in the Newborn Baby - Jaundice is actually a symptom not a disease, it is recognized primarily by the yellow discoloration of the skin.
Page Information, Citing and Disclaimer
Disabled World is a comprehensive online resource that provides information and news related to disabilities, assistive technologies, and accessibility issues. Founded in 2004 our website covers a wide range of topics, including disability rights, healthcare, education, employment, and independent living, with the goal of supporting the disability community and their families.
Cite This Page (APA): Langtree, I. C. (2009, April 1 - Last revised: 2023, January 28). Cerebro Oculo Facio Skeletal Syndrome (COFS) . Disabled World. Retrieved October 11, 2024 from www.disabled-world.com/health/pediatric/cerebro-oculo-facio-skeletal.php
Permalink: <a href="https://www.disabled-world.com/health/pediatric/cerebro-oculo-facio-skeletal.php">Cerebro Oculo Facio Skeletal Syndrome (COFS) </a>: Cerebro oculo facio skeletal syndrome is a pediatric genetic degenerative disorder that involves the brain and the spinal cord that begins before birth.
Disabled World provides general information only. Materials presented are never meant to substitute for qualified medical care. Any 3rd party offering or advertising does not constitute an endorsement.