Cardiofaciocutaneous syndrome

A multiple congenital anomaly disorder characterized by a distinctive facies, INTELLECTUAL DISABILITY, and cardiovascular abnormalities that include PULMONIC STENOSIS; ATRIAL SEPTAL DEFECT, and HYPERTROPHIC CARDIOMYOPATHY. Ectodermal abnormalities such as sparse hair, skin lesions, and ICHTHYOSIS may also be present. Usually occurs sporadically, but germline mutations in the BRAF gene have been identified in some patients with CFC1. OMIM: 115150

Also Known As:

Cardio-Facio-Cutaneous Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Cardiovascular Abnormalities: 452
    - Congenital Heart Defects: 8917
      - Cardiofaciocutaneous syndrome: 51
  - Multiple Abnormalities: 211
    - Ectodermal Dysplasia: 505
      - Cardiofaciocutaneous syndrome: 51
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Cardiofaciocutaneous syndrome: 51
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Cardiofaciocutaneous syndrome: 51
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Cardiofaciocutaneous syndrome: 51
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Cardiofaciocutaneous syndrome: 51
Signs and Symptoms Pathological Conditions
- Pathologic Processes: 10023
  - Disease Attributes: 18
    - Facies: 585
      - Cardiofaciocutaneous syndrome: 51
- Signs and Symptoms
  - Failure to Thrive: 1121
    - Cardiofaciocutaneous syndrome: 51
Cardiovascular Diseases: 91362
- Heart Diseases: 26014
  - Congenital Heart Defects: 8917
    - Cardiofaciocutaneous syndrome: 51
- Cardiovascular Abnormalities: 452
  - Congenital Heart Defects: 8917
    - Cardiofaciocutaneous syndrome: 51

Rani Nagaraja Selected Research

Rani Nagaraja Research Topics

Disease

Drug/Important Bio-Agent (IBA)