Symbrachydactyly of hands and feet

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Synonyms: De Smet-Fabry-Fryns syndrome

Symbrachydactyly of hands and feet is a 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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