Subscribe for daily wellness inspiration

Like onlymyhealth on Facebook!

What is the Prognosis of Cerebro Oculo Facio Skeletal Syndrome

By  ,  Onlymyhealth editorial team
Sep 29, 2012
4.8 / 5(4 Ratings)
Quick Bites

  • COFS is a paediatric, genetic, degenerative disorder.
  • It is characterized by craniofacial and skeletal abnormalities.
  • COFS is a fatal disease.
  • Most children do not live beyond five years.

More

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 one 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.
Individuals with cerebro-oculo-facio-skeletal syndrome are usually identified at birth or shortly thereafter, on the basis of their physical appearance and severe psychomotor retardation. However, some may present prenatally.

Cerebro Oculo Facio Skeletal Syndrome

The appearance of those affected by the disorder is relatively characteristic and includes the major diagnostic criteria of (1) microcephaly; (2) ocular anomalies including cataracts, microphthalmia, optic atrophy, and blepharophimosis ; (3) dysmorphic facies with a high and broad nasal bridge, large ears, overhanging upper lip, and micrognathia; and (4) musculo-skeletal abnormalities including flexion contractures of the limbs (arthrogryposis), scoliosis, hip dysplasia or dislocation, narrow pelvis, short stature, osteoporosis, dysplastic acetabula, and rocker-bottom feet with proximal displacement of the second metatarsals and longitudinal grooves in the soles along the second metatarsal.

Infants may also have a short neck, hirsutism, widely spaced nipples, single palmar creases, axial hypotonia, peripheral hypertonia, and renal anomalies. Affected children are usually small at birth due to intrauterine growth retardation; growth progresses poorly in the postnatal period as well.

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counselling is available. COFS is a fatal disease. Most children do not live beyond five years.

Image: Getty

 

Read more articles on Cerebro Oculo Facio Skeletal Syndrome

 

 

Related Articles
4.8 / 5(4 Ratings)
Write a Review
Post a Comment
Disclaimer +
Though all possible measures have been taken to ensure accuracy, reliability, timeliness and authenticity of the information; Onlymyhealth assumes no liability for the same. Using any information of this website is at the viewers’ risk. Please be informed that we are not responsible for advice/tips given by any third party in form of comments on article pages . If you have or suspect having any medical condition, kindly contact your professional health care provider.

Medical Miracle

India’s pregnant man?India’s pregnant man?