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Arthrogryposis-ectodermal dysplasia syndrome

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Disease 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.

ORPHA:3200

Classification level: Disorder

Synonym(s):
  • Stoll-Alembik-Finck syndrome

Prevalence: <1 / 1 000 000

Inheritance: Unknown

Age of onset: Infancy, Neonatal

ICD-10: Q68.8

OMIM: 601701

UMLS: C5191837

GARD: 5029

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018)
Additional information
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