Johanson Blizzard syndrome

A hereditary autosomal recessive disorder characterized by poor growth, intellectual disability, and variable dysmorphic features, including nasal alae abnormalities, abnormal hair patterns or scalp defects, ANODNOTIA. Affected individuals may also have hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency. Mutations in the UBR1 gene have been identified. OMIM: 243800

Also Known As:

Ectodermal Dysplasia-Exocrine Pancreatic Insufficiency; Johanson-Blizzard Syndrome; Malabsorption-Ectodermal Dysplasia-Nasal Alar Hypoplasia; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, Congenital Deafness; Nasal Alar Hypoplasia, Hypothyroidism, Pancreatic Achylia, and Congenital Deafness

Digestive System Diseases: 1068
- Pancreatic Diseases: 1654
  - Johanson Blizzard syndrome: 27
- Digestive System Abnormalities
  - Imperforate Anus: 188
    - Johanson Blizzard syndrome: 27
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Ectodermal Dysplasia: 512
      - Johanson Blizzard syndrome: 27
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 512
      - Johanson Blizzard syndrome: 27
  - Digestive System Abnormalities
    - Imperforate Anus: 188
      - Johanson Blizzard syndrome: 27
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Ectodermal Dysplasia: 512
      - Johanson Blizzard syndrome: 27
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 512
      - Johanson Blizzard syndrome: 27
  - Genetic Skin Diseases: 51
    - Ectodermal Dysplasia: 512
      - Johanson Blizzard syndrome: 27
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10385
  - Growth Disorders: 2351
    - Johanson Blizzard syndrome: 27
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neurobehavioral Manifestations: 1632
      - Intellectual Disability: 8222
        Johanson Blizzard syndrome: 27
    - Sensation Disorders: 123
      - Hearing Disorders: 329
        Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Johanson Blizzard syndrome: 27
Otorhinolaryngologic Diseases: 204
- Ear Diseases: 267
  - Hearing Disorders: 329
    - Hearing Loss: 12667
      - Sensorineural Hearing Loss: 4083
        Johanson Blizzard syndrome: 27
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Johanson Blizzard syndrome: 27
  - Sensation Disorders: 123
    - Hearing Disorders: 329
      - Hearing Loss: 12667
        Sensorineural Hearing Loss: 4083
        Johanson Blizzard syndrome: 27
Endocrine System Diseases: 996
- Thyroid Diseases: 6248
  - Hypothyroidism: 17324
    - Johanson Blizzard syndrome: 27
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1632
  - Intellectual Disability: 8222
    - Johanson Blizzard syndrome: 27
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Intellectual Disability: 8222
    - Johanson Blizzard syndrome: 27
Body Regions
- Head
  - Face
    - Nose
      - Johanson Blizzard syndrome: 27
Respiratory System
- Nose
  - Johanson Blizzard syndrome: 27
Sense Organs
- Nose
  - Johanson Blizzard syndrome: 27

V V Bakhshinian Selected Research

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Therapy/Procedure