Fraser Syndrome

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.

Also Known As:

Cryptophthalmos with Other Malformations; Cryptophthalmos-Syndactyly Syndrome; Cryptophthalmos Syndactyly Syndrome; Cryptophthalmos-Syndactyly Syndromes; Syndrome, Fraser

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Syndactyly: 353
        Fraser Syndrome: 36
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Syndactyly: 353
      - Fraser Syndrome: 36
  - Congenital Limb Deformities: 8
    - Syndactyly: 353
      - Fraser Syndrome: 36
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Fraser Syndrome: 36
Urogenital Diseases: 126
- Urogenital Abnormalities: 76
  - Fraser Syndrome: 36
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urogenital Abnormalities: 76
      - Fraser Syndrome: 36
- Male Urogenital Diseases
  - Urogenital Abnormalities: 76
    - Fraser Syndrome: 36
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Fraser Syndrome: 36
  - Eye Abnormalities: 95
    - Fraser Syndrome: 36
  - Urogenital Abnormalities: 76
    - Fraser Syndrome: 36
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Syndactyly: 353
        Fraser Syndrome: 36
    - Congenital Limb Deformities: 8
      - Syndactyly: 353
        Fraser Syndrome: 36

Johannes Kluger Selected Research

Johannes Kluger Research Topics

Disease

Drug/Important Bio-Agent (IBA)