Encephalocraniocutaneous lipomatosis

A neurocutaneous disorder that occurs as isolated cases. It is characterized by ocular anomalies, skin lesions, and central nervous system anomalies. OMIM: 613001

Also Known As:

Fishman syndrome

Eye Diseases: 3522
- Encephalocraniocutaneous lipomatosis: 5
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Lipomatosis: 376
    - Encephalocraniocutaneous lipomatosis: 5
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Neurocutaneous Syndromes: 262
        Encephalocraniocutaneous lipomatosis: 5
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Neurocutaneous Syndromes: 262
        Encephalocraniocutaneous lipomatosis: 5
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Lipid Metabolism Disorders: 898
    - Lipomatosis: 376
      - Encephalocraniocutaneous lipomatosis: 5
Nervous System Diseases: 14178
- Neurocutaneous Syndromes: 262
  - Encephalocraniocutaneous lipomatosis: 5
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Ectodermal Dysplasia: 505
      - Neurocutaneous Syndromes: 262
        Encephalocraniocutaneous lipomatosis: 5
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Neurocutaneous Syndromes: 262
        Encephalocraniocutaneous lipomatosis: 5
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Neurocutaneous Syndromes: 262
        Encephalocraniocutaneous lipomatosis: 5

S Jakubiczka Selected Research

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Disease

Drug/Important Bio-Agent (IBA)