Rothmund-Thomson Syndrome

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Also Known As:

Syndrome, Rothmund-Thomson; Congenital Poikiloderma; Poikiloderma Atrophicans and Cataract; Poikiloderma Congenitale of Rothmund-Thomson; Poikiloderma of Rothmund-Thomson; Congenitale, Poikiloderma; Congenitales, Poikiloderma; Poikiloderma Congenitales; Poikiloderma of Rothmund Thomson; Rothmund Thomson Syndrome; Rothmund-Thomson Poikiloderma; Rothmund-Thomson Poikilodermas; Poikiloderma Congenitale

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Skin Abnormalities: 159
    - Rothmund-Thomson Syndrome: 85
- Inborn Genetic Diseases: 12342
  - Genetic Skin Diseases: 51
    - Rothmund-Thomson Syndrome: 85
- Diseases Newborn Infant: 271
  - Rothmund-Thomson Syndrome: 85
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Skin Abnormalities: 159
    - Rothmund-Thomson Syndrome: 85
  - Genetic Skin Diseases: 51
    - Rothmund-Thomson Syndrome: 85
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - DNA Repair-Deficiency Disorders: 544
    - Rothmund-Thomson Syndrome: 85

Daniela Cornacchia Selected Research

Daniela Cornacchia Research Topics

Disease

Drug/Important Bio-Agent (IBA)