Oculodentodigital Dysplasia

A rare hereditary autosomal dominant condition that affects multiple parts of the body; particularly the face, eyes, teeth, and extremities. Affected individuals often have small eyes (MICROPHTHALMIA), small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features include a thin nose and SYNDACTYLY between the fourth and fifth fingers. HYPOTRICHOSIS, syndactyly of the toes, curvature of fingers, MICROCEPHALY, and CLEFT PALATE may also occur but are less common. Some patients may also experience ATAXIA, MUSCLE SPASTICITY, hearing loss, and speech difficulties. Mutations in the GJA1 gene have been identified. OMIM: 164200

Also Known As:

ODD Syndrome; Oculo-Dento-Digital Dysplasia; Oculo-Dento-Osseous Dysplasia; Oculodentodigital Syndrome; Oculodentoosseous Dysplasia; Osseous-Oculo-Dental Dysplasia

Eye Diseases: 3620
- Eye Abnormalities: 96
  - Oculodentodigital Dysplasia: 125
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Eye Abnormalities: 96
    - Oculodentodigital Dysplasia: 125
  - Musculoskeletal Abnormalities: 46
    - Synostosis: 807
      - Syndactyly: 359
        Oculodentodigital Dysplasia: 125
    - Craniofacial Abnormalities: 208
      - Oculodentodigital Dysplasia: 125
    - Congenital Limb Deformities: 8
      - Syndactyly: 359
        Oculodentodigital Dysplasia: 125
      - Congenital Lower Extremity Deformities
        Congenital Foot Deformities: 7
        Oculodentodigital Dysplasia: 125
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 35
      - Oculodentodigital Dysplasia: 125
Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Developmental Bone Diseases: 156
    - Dysostoses: 94
      - Synostosis: 807
        Syndactyly: 359
        Oculodentodigital Dysplasia: 125
- Foot Deformities: 466
  - Congenital Foot Deformities: 7
    - Oculodentodigital Dysplasia: 125
- Musculoskeletal Abnormalities: 46
  - Synostosis: 807
    - Syndactyly: 359
      - Oculodentodigital Dysplasia: 125
  - Craniofacial Abnormalities: 208
    - Oculodentodigital Dysplasia: 125
  - Congenital Limb Deformities: 8
    - Syndactyly: 359
      - Oculodentodigital Dysplasia: 125
    - Congenital Lower Extremity Deformities
      - Congenital Foot Deformities: 7
        Oculodentodigital Dysplasia: 125
Stomatognathic Diseases: 725
- Tooth Diseases: 34
  - Tooth Abnormalities: 35
    - Oculodentodigital Dysplasia: 125
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 35
    - Oculodentodigital Dysplasia: 125

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