Kenny-Caffey syndrome

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Kenny-Caffey syndrome

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: // Data version October 2023.

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Advocacy Organizations

Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Clinical Trials

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