Terminal osseous dysplasia - pigmentary defects (Q84034): Difference between revisions
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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 |
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| default for all languages | ID_1298938435 |
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| 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. |
