Campomelic Dysplasia

Campomelic dysplasia is an abnormality affecting the skeletal structure and reproductive system in infants.  This disorder is often fatal for the affected infants. The disorder is named after the Greek term for bent limb as infants with this disorder are born with bowed legs and arms.

 

This disorder is relatively uncommon, occurring in 1 in 200000 live births.

 

Symptoms of this disorder:

 

Infants affected with Campomelic Dysplasia are born with:

  1. Bowed limbs

  2. Skin dimples over the lower legs.

  3. Short legs

  4. Dislocated hips

  5. Partially developed shoulder blades

  6. 11 pairs of ribs instead of the normal 12 pairs

  7. Abnormally rotated feet

  8. Deformed bones in the neck

  9. Ambiguous external genital organs

  10. Ambiguous internal reproductive organs

  11. Flat face, small chin and prominent eyes

  12. Underdeveloped lower jaw, 

  13. Weakened  structure of the upper respiratory system

 

Cause of Campomelic Dysplasia:

 

The genetic cause of Campomelic Dysplasia is still a subject of medical debate. Mutations in the SOX9 gene are thought of to be the cause of campomelic dysplasia. This gene controls protein synthesis in the foetus .Mutations affect the development of skeletal structure and reproductive systems. Scientists estimate that this mutation occurs spontaneously and may not be hereditary in nature. But research has also shown that the offspring of a person with symptoms of camp melic dysplasia has a 50 per cent chance of inheriting the disorder. This syndrome has recurred in siblings also.

 

Prognosis and treatment

 

Very few infants with campomelic dysplasia have survived beyond infancy as they face problems with breathing and feeding due to the underdeveloped respiratory system and small size of thoracic region .Infants with respiratory problems may have to be placed on oxygen.

 

Chances of infants with campomelic dysplasia surviving past infancy have improved due to advances in neo natal medical care. Infants with this syndrome need constant monitoring into their childhood.

  1. Developmental milestones are delayed due to the poor skeletal structure. Loss of motor ability may be due to compression of the spine and in case of sudden loss of motor skills, an MRI scan may be recommended.

  2. As lungs are underdeveloped and the thoracic cavity does not grow corresponding to physical age, these children are susceptible to recurrent chest infections.

  3. Bowing of limbs may cause locomotory problems.

Children diagnosed with this syndrome have complications from twisting of the spine. Orthopaedic surgeons would be best qualified to advise on the problems associated with the skeleton i.e. spinal n limb and clubfoot deformities. Infants with this disorder are likely to have impaired hearing and pulmonary and cardiac complications.  The hearing and heart should be checked regularly. 



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