Thanatophoric Dysplasia

A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.

Also Known As:

Dwarfism, Thanatophoric; Thanatophoric Dwarfism; Thanatophoric Short Stature; Dwarfisms, Thanatophoric; Dysplasia, Thanatophoric; Dysplasias, Thanatophoric; Thanatophoric Dwarfisms; Thanatophoric Dysplasias

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Achondroplasia: 567
        Thanatophoric Dysplasia: 104
    - Osteochondrodysplasias: 592
      - Achondroplasia: 567
        Thanatophoric Dysplasia: 104
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Thanatophoric Dysplasia: 104
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Thanatophoric Dysplasia: 104
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Achondroplasia: 567
      - Thanatophoric Dysplasia: 104
- Diseases Newborn Infant: 266
  - Thanatophoric Dysplasia: 104

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Disease

Drug/Important Bio-Agent (IBA)