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Arthrogryposis-ectodermal dysplasia-other anomalies syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Arthrogryposis-ectodermal dysplasia syndrome; arthrogryposis-ectodermal dysplasia-other anomalies syndrome; Stoll-Alembik-Finck syndrome
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0044406
Orphanet: ORPHA3200


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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis-ectodermal dysplasia-other anomalies syndrome

Recent clinical studies


Bahsi T, Unal A, Bakir A, Perçin EF
Genet Couns 2016;27(3):411-418. PMID: 30204972


Bahsi T, Unal A, Bakir A, Perçin EF
Genet Couns 2016;27(3):411-418. PMID: 30204972
Geffner ME
Cancer Control 2002 May-Jun;9(3):212-22. doi: 10.1177/107327480200900304. PMID: 12060819
Hicks J, Metry DW, Barrish J, Levy M
Ultrastruct Pathol 2001 Mar-Apr;25(2):99-103. PMID: 11407534

Clinical prediction guides

Bawle EV, Black V
Am J Dis Child 1986 Aug;140(8):758-60. doi: 10.1001/archpedi.1986.02140220040028. PMID: 3728401

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