Pseudoanodontia and Optic atrophy Alopecia Growth retardation

A congenital syndrome characterized by slow or delayed growth, frontal bossing (unusually prominent forehead), MICROGNATHISM; failed tooth eruption, optic atrophy and severe hypotrichosis. It is caused by mutations in the anthrax toxin receptor 1 (ANTXR1) gene. OMIM: 230740

Also Known As:

Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy; Gapo Syndrome; Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy; Odontotrichomelic Syndrome; Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities

Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Hair Diseases: 37
    - Hypotrichosis: 174
      - Alopecia: 8151
        Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Growth Disorders: 2351
    - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
- Anatomical Pathological Conditions
  - Alopecia: 8151
    - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
Stomatognathic Diseases: 725
- Tooth Diseases: 34
  - Tooth Abnormalities: 35
    - Anodontia: 384
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 35
    - Anodontia: 384
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 35
      - Anodontia: 384
        Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
- Inborn Genetic Diseases: 12342
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Optic Atrophies: 7
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
  - Hereditary Eye Diseases: 19
    - Hereditary Optic Atrophies: 7
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
Nervous System Diseases: 14737
- Neurodegenerative Diseases: 44095
  - Nervous System Heredodegenerative Disorders: 62
    - Hereditary Optic Atrophies: 7
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
- Cranial Nerve Diseases: 564
  - Optic Nerve Diseases: 2736
    - Optic Atrophy: 839
      - Hereditary Optic Atrophies: 7
        Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
Eye Diseases: 3620
- Optic Nerve Diseases: 2736
  - Optic Atrophy: 839
    - Hereditary Optic Atrophies: 7
      - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10
- Hereditary Eye Diseases: 19
  - Hereditary Optic Atrophies: 7
    - Pseudoanodontia and Optic atrophy Alopecia Growth retardation: 10

Osman Salkaci Selected Research

Osman Salkaci Research Topics

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