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Arthrogryposis-like syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Arthrogryposis-like disorder; Kuskokwim disease
SNOMED CT: Kuskokwim syndrome (702447002); Arthrogryposis-like syndrome (702447002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0015241
OMIM®: 259450
Orphanet: ORPHA1149


A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. [from ORDO]

Term Hierarchy

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

Recent clinical studies


Tauseef U, Ibrahim M, Noor N, Hanif M
J Ayub Med Coll Abbottabad 2023 Apr-Jun;35(2):341-347. doi: 10.55519/JAMC-02-11056. PMID: 37422836
Sherer DM, Hsieh V, Kheyman M, Field A, Dalloul M
J Clin Ultrasound 2021 Jul;49(6):622-624. Epub 2021 Mar 28 doi: 10.1002/jcu.23007. PMID: 33778969
Renzetti G, Villani A, Bizzarri C, Chessa L, Vignati E, Gianotti A, Cappa M, Szakacs J, Townsend JJ, Miller ME, Opitz JM, Kennedy AM, Byrne JL
Am J Med Genet A 2005 Nov 1;138(4):401-10. doi: 10.1002/ajmg.a.30600. PMID: 16208689
Houston CS, Chudley AE
J Can Assoc Radiol 1981 Dec;32(4):220-3. PMID: 7328100

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