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Rothmund-Thomson Syndrome MeSH Descriptor Data 2021


MeSH Heading
Rothmund-Thomson Syndrome
Tree Number(s)
C16.131.831.775
C16.320.850.765
C16.614.760
C17.800.804.775
C17.800.827.775
C18.452.284.760
Unique ID
D011038
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D011038
Scope Note
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.
Entry Term(s)
Congenital Poikiloderma
Poikiloderma Atrophicans and Cataract
Poikiloderma Congenitale
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma of Rothmund-Thomson
Public MeSH Note
2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990
History Note
2006 (1964)
Date Established
1991/01/01
Date of Entry
1999/01/01
Revision Date
2015/06/18
Rothmund-Thomson Syndrome Preferred
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