CHARGE Syndrome

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

Also Known As:

CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Hall-Hittner Syndrome; CHARGE Associations; CHARGE Syndrome, Familial; CHARGE Syndromes; CHARGE Syndromes, Familial; Familial CHARGE Syndromes; Hall Hittner Syndrome; CHARGE Association; Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Familial CHARGE Syndrome

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Deafness: 5416
        Deaf-Blind Disorders: 69
        CHARGE Syndrome: 223
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Vision Disorders: 2977
      - Blindness: 5548
        Deaf-Blind Disorders: 69
        CHARGE Syndrome: 223
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Deafness: 5416
        Deaf-Blind Disorders: 69
        CHARGE Syndrome: 223
Eye Diseases: 3522
- Vision Disorders: 2977
  - Blindness: 5548
    - Deaf-Blind Disorders: 69
      - CHARGE Syndrome: 223
- Hereditary Eye Diseases: 18
  - Coloboma: 478
    - CHARGE Syndrome: 223
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Deaf-Blind Disorders: 69
      - CHARGE Syndrome: 223
- Inborn Genetic Diseases: 11939
  - CHARGE Syndrome: 223
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Vision Disorders: 2977
        Blindness: 5548
        Deaf-Blind Disorders: 69
        CHARGE Syndrome: 223
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Deafness: 5416
        Deaf-Blind Disorders: 69
        CHARGE Syndrome: 223

J T Roland Selected Research

J T Roland Research Topics

Disease

Therapy/Procedure