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DeCS
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Descriptor English:
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Rothmund-Thomson Syndrome
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Descriptor Spanish:
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Síndrome Rothmund-Thomson
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Descriptor Portuguese:
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Síndrome de Rothmund-Thomson
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Synonyms English:
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Congenital Poikiloderma
Congenitale, Poikiloderma
Congenitales, Poikiloderma
Poikiloderma Atrophicans and Cataract
Poikiloderma Congenitale
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma Congenitales
Poikiloderma of Rothmund Thomson
Poikiloderma of Rothmund-Thomson
Rothmund Thomson Syndrome
Rothmund-Thomson Poikiloderma
Rothmund-Thomson Poikilodermas
Syndrome, Rothmund-Thomson
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Tree Number:
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C16.131.831.775
C16.320.850.765
C16.614.760
C17.800.804.775
C17.800.827.775
C18.452.284.760
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Definition English:
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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. |
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History Note English:
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2006 (1964)
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Allowable Qualifiers English:
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Record Number:
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11468
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Unique Identifier:
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D011038
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Occurrence in VHL:
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Similar:
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DeCS
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