Kenny-Caffey syndrome- Type 1

Overview

A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.

Symptoms

* Tetanic convulsions * Delayed physical development * Myopia * Small eyes * Farsightedness * Swelling of optic disk * Vascular tortuosity * 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 low blood calcium level * High level of phosphates in blood * Microcytic anemia * Reduced number of neutrophils in blood * Neonatal liver disease * Small hands * Small feet * Hypoparathyroidism

Diagnosis

signs and symptoms of Kenny-Caffey syndrome, Type 1 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Kenny-Caffey syndrome, Type 1 symptoms.