Autosomal dominant Kenny-Caffey syndrome
A rare primary bone dysplasia characterized by severe growth retardation short stature cortical thickening and medullary stenosis of long bones delayed closure of the anterior fontanelle absent diploic space in the skull bones prominent forehead macrocephaly dental anomalies eye problems (hypermetropia and pseudopapilledema) and hypocalcemia due to hypoparathyroidism sometimes resulting in convulsions. Intelligence is normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Autosomal dominant Kenny-Caffey syndrome?
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HypoPARAthyroidism Association, Inc
To improve lives of people impacted by HypoPARAthyroisism through education, support research and advocacy.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
For a list of clinical trials in this disease area, please click here.