Kenny-Caffey syndrome

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Synonyms: Kenny syndrome

A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short stature cortical thickening and medullary stenosis of the long bones delayed anterior fontanelle closure hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism including prominent forehead microphthalmia and micrognathia. Additional manifestations include ocular and dental anomalies (e.g. corneal opacity hyperopia optic atrophy tortuous retinal vessels dental caries enamel defects) and occasionally hypoplastic nails and neonatal liver disease. Inheritance may be autosomal dominant or autosomal recessive with more severe growth retardation small hands and feet intellectual disability microcephaly and recurrent bacterial infections being observed in the latter.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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