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Start free with EleplanDysostosis with brachydactyly
ORPHA:69028Category
What it is
A group of rare disorders characterized by brachydactyly due to abnormal development of the phalanges and/or metacarpals. Brachydactyly is part of a group of limb malformations characterized by dysostosis, involving abnormal development of individual bones, either in isolation or in combination with other skeletal abnormalities. These disorders primarily affect the skeleton, although extraskeletal manifestations may also occur.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Classified as
- Category
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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