Structured Summary
Abstract
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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Classification
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Synonyms
13 entry terms
- Congenital Poikiloderma
- Poikiloderma Atrophicans and Cataract
- Poikiloderma Congenitale
- Poikiloderma Congenitale of Rothmund-Thomson
- Poikiloderma of Rothmund-Thomson
- Congenitale, Poikiloderma
- Congenitales, Poikiloderma
- Poikiloderma Congenitales
- Poikiloderma of Rothmund Thomson
- Rothmund Thomson Syndrome
- Rothmund-Thomson Poikiloderma
- Rothmund-Thomson Poikilodermas
- Syndrome, Rothmund-Thomson
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2006 (1964)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Rothmund-Thomson Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D011038. http://id.nlm.nih.gov/mesh/2026/D011038
- Rothmund-Thomson Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Rothmund%E2%80%93Thomson_syndrome
- Rothmund-Thomson Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1583485