Symbrachydactyly of hands and feet

Orpha code: 1570OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
De Smet-Fabry-Fryns syndrome
Zespół De Smeta, Fabry'ego i Frynsa
Kod ORPHA
1570
Kod OMIM
-
Kod ICD10
Q73.8
Kod ICD11
LB75.2

No additional description.

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