Arthrogryposis renal dysfunction cholestasis syndrome

A hereditary autosomal recessive disorder characterized by FAILURE TO THRIVE, arthrogryposis, MICROCEPHALY; MICROGNATHIA, cholestasis, renal insufficiency and LIVER DISEASES. Structural cardiac defects may also be present but are uncommon. Death usually occurs in infancy. Mutations in the VPS33B gene have been identified. OMIM: 208085

Also Known As:

ARC syndrome; ARCS; ARCS1; Arthrogryposis multiplex congenita, renal dysfunction, and cholestasis; Arthrogryposis, Renal Dysfunction, And Cholestasis; Arthrogryposis, renal dysfunction, and cholestasis 1

Musculoskeletal Diseases: 751
- Muscular Diseases: 10368
  - Arthrogryposis: 333
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
- Joint Diseases: 6625
  - Arthrogryposis: 333
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
- Musculoskeletal Abnormalities: 46
  - Arthrogryposis: 333
    - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Musculoskeletal Abnormalities: 46
    - Arthrogryposis: 333
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
Digestive System Diseases: 1068
- Biliary Tract Diseases: 470
  - Bile Duct Diseases: 96
    - Cholestasis: 8057
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Renal Insufficiency: 33653
      - Arthrogryposis renal dysfunction cholestasis syndrome: 1027
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Renal Insufficiency: 33653
        Arthrogryposis renal dysfunction cholestasis syndrome: 1027
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Renal Insufficiency: 33653
        Arthrogryposis renal dysfunction cholestasis syndrome: 1027

Cassandra Crone Selected Research

Cassandra Crone Research Topics

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