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Disease Rothmund-Thomson Syndrome

Name Rothmund-Thomson Syndrome
Synonyms Congenitale, Poikiloderma | Congenitales, Poikiloderma | Congenital Poikiloderma | Poikiloderma Atrophicans and Cataract | Poikiloderma Congenitale | Poikiloderma Congenitale of Rothmund-Thomson | Poikiloderma Congenitales | Poikiloderma of Rothmund Thomson | Poikiloderma of Rothmund-Thomson | Rothmund-Thomson Poikiloderma | Rothmund-Thomson Poikilodermas | Rothmund Thomson Syndrome | RTS | Syndrome, Rothmund-Thomson
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Infant-newborn disease | Metabolic disease | Skin disease
MeSH® ID D011038
OMIM® ID 268400
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Infant, Newborn, Diseases Has associated chemicals Has associated genes Has associated exposure references Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
4. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Abnormalities Has associated chemicals Has associated genes Has associated exposure references Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
5. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases Has associated chemicals Has associated genes Has associated exposure references Skin Diseases, Genetic Has associated chemicals Has associated genes Has associated exposure references Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references DNA Repair-Deficiency Disorders Has associated chemicals Has associated genes Rothmund-Thomson Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Rothmund-Thomson Syndrome Has associated chemicals Has associated genes
  Navajo poikiloderma
  PARC syndrome
  Rapadilino syndrome Has associated chemicals Has associated genes
  Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris
  Spastic paraplegia neuropathy poikiloderma