Kenny-Caffey syndrome
Kenny-Caffey Syndrome
Kenny-Caffey Syndrome (pronunciation: KEN-ee KAF-ee sin-drome) is a rare, genetic disorder characterized by growth retardation, cortical thickening of tubular bones, and transient hypocalcemia in infancy.
Etymology
The syndrome is named after the physicians who first described it, Dr. David Kenny and Dr. E. M. Caffey, in 1967.
Symptoms
The primary symptoms of Kenny-Caffey Syndrome include:
- Growth retardation
- Cortical thickening of tubular bones
- Transient hypocalcemia in infancy
- Small head size (microcephaly)
- Eye abnormalities such as glaucoma and cataract
- Delayed closure of the spaces between the bones of the skull (fontanelles)
- Intellectual disability
Causes
Kenny-Caffey Syndrome is caused by mutations in the TBCE gene. This gene provides instructions for making a protein that is involved in the formation of microtubules, which are part of the cell's structural framework.
Diagnosis
Diagnosis of Kenny-Caffey Syndrome is based on clinical examination, radiographic findings, and confirmed by genetic testing for mutations in the TBCE gene.
Treatment
Treatment of Kenny-Caffey Syndrome is symptomatic and supportive. This may include calcium supplementation for hypocalcemia and surgical intervention for bone abnormalities.
See Also
- Genetic disorder
- Growth retardation
- Hypocalcemia
- Microcephaly
- Glaucoma
- Cataract
- Fontanelles
- TBCE gene
- Microtubules
External links
- Medical encyclopedia article on Kenny-Caffey syndrome
- Wikipedia's article - Kenny-Caffey syndrome
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