Stoll Alembik Finck syndrome

Alternate names

Arthrogryposis - ectodermal dysplasia - other anomalies; Stoll-Alembik-Finck syndrome

Definition

A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992.

NIH genetic and rare disease info

NIH info on Stoll Alembik Finck syndrome

Stoll Alembik Finck syndrome is a rare disease.

Resources

Frequently asked questions

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Stoll Alembik Finck syndrome
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