Beare Stevenson Cutis Gyrata Syndrome

The Beare Stevenson Cutis Gyrata syndrome is among the rarest of genetic disorders with less than 20 cases reported worldwide. This syndrome is usually fatal in early childhood.  It is characterized by craniofacial anomalies with cutis gyrata and may be associated with anogenital anomalies and prominen umbilical stump.

 

A child that is born with this condition experiences premature fusing of the skill bones causing the head to grow abnormally. Skin abnormalities can occur too. Others may exhibit twisted hair, fragile nails, scarcity of body hair, and fragile nails, and even mental retardation. 

 

Characteristics of this syndrome are:

 

  1. Cloverleaf shaped skull

  2. Wide set and bulging eyes which slant downward

  3. Ear abnormalities

  4. Under developed upper jaw

  5. Arrested mental development

  6. A dermatological disorder called cutis gyrate is typical of this disorder. The skin has a wrinkled appearance on the face, near the ears and on the palms and soles. The skin has a corrugated appearance from birth and appears on the scalp and arms

  7. Thick, velvety patches of skin are found on the hands and feet as also near the genitals.

  8. Overgrowth of the umbilical stump

  9. Blocked nasal passages

  10. Deformed anal and genital organs

  11. Fluid on the brain

  12. Nerve connections between the right and left brain hemispheres are not well developed.

  13. Children with this condition may be born with teeth

  14. Small fingernails.

  15. Inability to straighten the limbs

  16. Cleft palate

  17. Misshapen middle portion of face

Facial and skull deformity in this syndrome is caused as certain bones of the skull fuse early in the foetus. This early fusion of the bones causes a misshapen face and head and puts pressure on the brain, which does not develop normally.

 

Cause of Beare Stevenson Cutis Gyrata syndrome:

 

There is a deficiency of scientific information as to the cause of this genetic disorder. This disorder has occurred in families with no previous history of this disorder. Hence, it is thought that mutation of one gene causes this disorder. Researchers have indicated that older the father’s age, higher is the chances of occurrence of this syndrome. Further chromosome 10 is the root for all medical research on this syndrome.

 

Mutation in a particular gene tagged as FGFR2 located on chromosome 10 causes this syndrome. This gene is a fibroblast growth receptor gene .mutation in this gene inhibits the synthesis of protein by cells and causes abnormal growth of cells.

 

Diagnosis and treatment:

 

This syndrome can be confirmed after physical examination of the child. Attendant doctors may advise a DNA testing if ultrasound tests indicate the typical cloverleaf shaped skull.

 

As on date, there is no proven course of treatment available due to paucity of reported cases of this syndrome. The children affected by this syndrome suffer mental retardation and die in infancy or early childhood.

 



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