Arthrogryposis-ectodermal dysplasia-other anomalies syndrome

MedGen UID:: 1674099
•Concept ID:: C5191837
•: Disease or Syndrome

Synonyms:	Arthrogryposis and ectodermal dysplasia syndrome; Arthrogryposis, ectodermal dysplasia, other anomalies syndrome; Arthrogryposis-ectodermal dysplasia syndrome; arthrogryposis-ectodermal dysplasia-other anomalies syndrome; Stoll Alembik Finck syndrome; Stoll-Alembik-Finck syndrome
SNOMED CT:	Arthrogryposis and ectodermal dysplasia syndrome (786039009); Stoll Alembik Finck syndrome (786039009); Arthrogryposis, ectodermal dysplasia, other anomalies syndrome (786039009)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0044406
Orphanet:	ORPHA3200

Definition

A rare genetic developmental defect during embryogenesis syndrome with characteristics of 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 SNOMEDCT_US]