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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Autosomal dominant Kenny-Caffey syndrome?
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