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Kenny Disease

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Kenny Disease is a very rare inherited skeletal disorder involving thickening of the long bones of the body and with the abnormalities of the head.

 

Kenny Disease also called Kenny-Caffey Syndrome is an extremely rare hereditary skeletal disorder which is characterized by thickening of the long bones with thin bone marrow cavities (medullary stenosis), and  also affecting the head and eyes. It is evident since birth since birth making it congenital. Mental abilities are rarely affected.But is often associated with recurrent episodes of low levels of Blood calcium (hypocalcaemia) due to hypoparathyroidism. 

Types

  • Kenny-Caffey Syndrome, Dominant Type
  • Kenny-Caffey Syndrome, Recessive Type
  • KCS2

Signs and Symptoms 

  • Tetanic convulsions
  • Delayed physical development
  • Myopia
  • Small eyes
  • Swelling of optic disk
  • Macular crowding
  • Dwarfism
  • Large anterior fontanel
  • Underdeveloped nails
  • Narrow long-bone shafts
  • Thickening of long bones
  • Thin marrow bone cavities of long bones
  • Craniofacial disproportion
  • Transient hypocalcemia
  • High level of phosphates in blood
  • Microcytic anemia

Treatment

There is no specific treatment for this disease supportive and symptomatic treatment is given.

In asymptomatic patients prophylactic Calcium is given orally.

In Hypocalcaemic attacks Symptomatic treatment for titanic convulsion include Calcium gluconate injections.

 

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