Cheirospondyloenchondromatosis

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Synonyms: Generalized enchondromatosis with platyspondyly

Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet platyspondyly mild to moderate short stature and intellectual disability.

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. Ā© INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Cheirospondyloenchondromatosis?

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