Arthrogryposis-ectodermal dysplasia syndrome

Orpha code: 3200OMIM code: 601701

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.

Disease data
Classification

Malformation syndrome

Synonyms
Stoll-Alembik-Finck syndrome
Artrogrypoza - dysplazja ektodermalna - inne wady
ORPHA code
3200
OMIM code
601701
ICD10 code
Q68.8
ICD11 code
-

No additional description.

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