Terminal osseous dysplasia - pigmentary defects (Q84034): Difference between revisions

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Latest revision as of 09:23, 15 August 2026

Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis, which appear a few months after birth. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases.

Language	Label	Description	Also known as
default for all languages	ID_1298938435
English	Terminal osseous dysplasia - pigmentary defects	Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis, which appear a few months after birth. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases.