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Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson) Summary

Description: 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; Poikiloderma Atrophicans and Cataract; Poikiloderma of Rothmund-Thomson; Congenitale, Poikiloderma; Congenitales, Poikiloderma Show All >>

Networked: 75 relevant articles (0 outcomes, 1 trials/studies) for this Disease

Key Drugs and Agents for Rothmund-Thomson Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Ubiquitin : 1 study in 1 result : IBA
  2. RecQ Helicases : 21 results : IBA
  3. Craniosynostosis radial aplasia syndrome : 8 results : IBA
  4. Rapadilino syndrome : 7 results : IBA
  5. DNA (Deoxyribonucleic Acid) : 6 results : IBA
  6. Poikiloderma of Kindler : 6 results : IBA
  7. Trichothiodystrophy : 5 results : IBA
  8. Proteins (Proteins, Gene) : 2 results : IBA
  9. DNA Helicases : 2 results : IBA
  10. mosaic trisomy Chromosome 8 : 2 results : IBA
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Diseases Related to Rothmund-Thomson Syndrome

  1. Werner Syndrome (Werner's Syndrome)
  2. Cockayne Syndrome (Syndrome, Cockayne)
  3. Progeria (Hutchinson Gilford Syndrome)
  4. Ataxia (Dyssynergia)
  5. Down Syndrome (Down's Syndrome)
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Key Therapies for Rothmund-Thomson Syndrome

Efficacy Chart >>
  1. Dye Lasers : 1 result
  2. Excimer Lasers : 1 result
  3. Cord Blood Stem Cell Transplantation : 1 result
  4. Radiotherapy : 1 result
  5. Immunotherapy : 1 result

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