Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Preferred term
Rothmund-Thomson Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- 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
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.
History note
- 2006 (1964)
In other languages
-
Finnish
-
kongenitaalinen poikiloderma
-
kongenitaalinen poikilodermia
-
poikiloderma congenitale
-
Rothmund-Thomson
-
Rothmund-Thomsonin syndrooma
-
synnynnäinen ihokirjotauti
-
synnynnäinen poikiloderma
-
synnynnäinen poikilodermia
-
Swedish
-
Poikiloderma congenitale
URI
http://www.yso.fi/onto/mesh/D011038
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}