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: 204
- Ear Diseases: 267
  - Hearing Disorders: 329
    - Hearing Loss: 12667
      - Deafness: 5496
        Deaf-Blind Disorders: 70
        CHARGE Syndrome: 232
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Sensation Disorders: 123
    - Vision Disorders: 3078
      - Blindness: 5709
        Deaf-Blind Disorders: 70
        CHARGE Syndrome: 232
    - Hearing Disorders: 329
      - Hearing Loss: 12667
        Deafness: 5496
        Deaf-Blind Disorders: 70
        CHARGE Syndrome: 232
Eye Diseases: 3620
- Vision Disorders: 3078
  - Blindness: 5709
    - Deaf-Blind Disorders: 70
      - CHARGE Syndrome: 232
- Hereditary Eye Diseases: 19
  - Coloboma: 487
    - CHARGE Syndrome: 232
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Deaf-Blind Disorders: 70
      - CHARGE Syndrome: 232
- Inborn Genetic Diseases: 12342
  - CHARGE Syndrome: 232
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Sensation Disorders: 123
      - Vision Disorders: 3078
        Blindness: 5709
        Deaf-Blind Disorders: 70
        CHARGE Syndrome: 232
      - Hearing Disorders: 329
        Hearing Loss: 12667
        Deafness: 5496
        Deaf-Blind Disorders: 70
        CHARGE Syndrome: 232

A Nichole Dailor Selected Research

A Nichole Dailor Research Topics

Disease

Therapy/Procedure