Cheirospondyloenchondromatosis

Orpha code: 99647OMIM code:

Definition

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.

Disease data
Classification

Disease

Synonyms
Generalized enchondromatosis with platyspondyly
Generalized enchondromatosis with platyspondyly
ORPHA code
99647
OMIM code
-
ICD10 code
Q78.8
ICD11 code
-

No additional description.

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