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Arthrogryposis-hyperkeratosis syndrome, lethal form

MedGen UID:
349230
•Concept ID:
C1859710
•
Disease or Syndrome
Synonyms: Arthrogryposis with Hyperkeratosis; Johnston Aarons Schelley syndrome; Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
SNOMED CT: Arthrogryposis hyperkeratosis syndrome lethal form (726620005); Johnston Aarons Schelley syndrome (726620005)
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:0008826
OMIM®: 208158
Orphanet: ORPHA1485

Definition

An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. [from SNOMEDCT_US]

Clinical features

From HPO
Arthrogryposis multiplex congenita
MedGen UID:
1830310
•Concept ID:
C5779613
•
Disease or Syndrome
Multiple congenital contractures in different body areas.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis-hyperkeratosis syndrome, lethal form
Follow this link to review classifications for Arthrogryposis-hyperkeratosis syndrome, lethal form in Orphanet.

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