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Genetic and Rare Diseases Information Center (GARD)

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Kenny-Caffey syndrome type 2

Other Names for this Disease
  • Dwarfism, cortical thickening of tubular bones and transient hypocalcemia
  • KCS2
  • Kenny-Caffey syndrome, autosomal dominant
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Your Question

I have two children who may have Kenny-Caffey syndrome. Can you provide me with information about this syndrome, including how the diagnosis can be confirmed?

Our Answer

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What is Kenny-Caffey syndrome type 2?

Kenny-Caffey syndrome type 2 is a genetic disorder characterized by abnormalities affecting the skeleton, the head, and the eyes.[1][2] Recurrent episodes of hypocalcemia in the blood are common.[2] Intelligence is normal. Inheritance in most cases is autosomal dominant.[1]
Last updated: 1/21/2010

What are the signs and symptoms of Kenny-Caffey syndrome type 2?

Kenny-Caffey syndrome type 2 is a congenital (present from birth) disorder which may first present with low birth weight. The condition usually affects several bones of the body.[2] Affected individuals often have proportionate short stature, thickening of the long bones, thin marrow cavities in the bones (medullary stenosis), small hands and feet, and delayed closure of the anterior fontanel (the "soft-spot" on the skull).[1][3] Eye abnormalities may include microphthalmos, myopia, cataracts and corneal / retinal calcification.[4] Hypocalcemia may come and go and may be more likely to manifest during periods of metabolic stress (i.e., during postoperative periods, or during infections).[1][2] Affected individuals may also have hypoparathyroidism and seizures. Males may have microorchidism (small testicles) or cryptorchidism. Anemia and dental abnormalities have also been reported.[4] Intelligence is normal.[1]
Last updated: 1/21/2010

What causes Kenny-Caffey syndrome type 2?

Most cases of Kenny-Caffey syndrome type 2 are inherited in an autosomal dominant manner.[1][3] The gene responsible for Kenny-Caffey syndrome type 2 has not yet been identified.
Last updated: 1/21/2010

How is Kenny-Caffey syndrome type 2 diagnosed?

Kenny-Caffey syndrome type 2 is diagnosed based on clinical findings. Key diagnostic features include growth retardation of prenatal or postnatal onset, hypoparathyroidism, cortical thickening of the long bones and/or hyperostosis of the calvarium (excessive bone formation in the skull), and ocular abnormalities. X-ray studies of the skeleton may reveal distinctive thickening of the outer layers (cortexes) of the long bones along with unusually thin marrow cavities. Ocular abnormalities can be identified through ophthalmologic evaluation. Blood tests can detect episodes of low levels of calcium in the blood (hypocalcemia).[2] Genetic testing for Kenny-Caffey syndrome type 2 is not yet available as the causative gene has not yet been identified.
Last updated: 1/21/2010

How is Kenny-Caffey syndrome type 2 treated?

Treatment is symptomatic and supportive. Hypocalcemia may be treated with vitamin D and calcium supplementation. Ocular abnormalities generally require corrective lenses.[2]
Last updated: 1/21/2010