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Start free with EleplanPreaxial digit brachydactyly-webbed fingers
ORPHA:633211Malformation syndrome
Also called Preaxial brachydactyly, PAX3 type
What it is
A rare dysostosis with brachydactyly characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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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