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Symbrachydactyly of hands and feet
rareA rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
- Identifiers
- MONDO:0015516 Orphanet:1570
- Part of
- Non-syndromic brachydactyly
- Also known as
- De Smet-Fabry-Fryns syndrome · frints de Smet Fabry Fryns syndrome · symbrachydactyly of the hand and foot
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