Rothmund-Thomson syndrome

Rothmund-Thomson syndrome
an autosomal recessive syndrome characterized by reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often with juvenile cataracts, saddle nose, congenital bone defects, disturbances in growth of hair, nails, and teeth, and hypogonadism. At least some cases appear to be caused by mutations affecting a particular DNA helicase. Called also poikiloderma congenitale. Cf. Thomson disease.

Medical dictionary. 2011.

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  • Rothmund-Thomson syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 29891 ICD10 = ICD9 = ICD9|757.33 ICDO = OMIM = 268400 MedlinePlus = eMedicineSubj = derm eMedicineTopic = 379 MeshID = D011038Rothmund Thomson Syndrome is a rare autosomal recessive [cite… …   Wikipedia

  • Rothmund-Thomson syndrome (RTS) — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • Rothmund-Thomson syndrome — Roth·mund Thom·son syndrome (rotґmoond tomґson) [August von Rothmund, Jr., German physician, 1830–1906; Mathew Sidney Thomson, English dermatologist, 1894–1969] see under syndrome …   Medical dictionary

  • RTS (Rothmund-Thomson syndrome) — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • Syndrome de rothmund-thomson — Autre nom Poïkilodermie de Rothmund Thomson Référence MIM …   Wikipédia en Français

  • Syndrome de Rothmund-Thomson — Référence MIM 268400 Transmission Récessive Chromosome 8q24.3 Gène RECQL4 Empreinte parentale Non …   Wikipédia en Français

  • Rothmund-Thomson-Syndrom — Klassifikation nach ICD 10 Q82.8 Sonstige näher bezeichnete angeborene Fehlbildungen der Haut …   Deutsch Wikipedia

  • Syndrome, Rothmund-Thomson — An hereditary disease characterized by progressive degeneration (atrophy), scarring and abnormal pigmentation of the skin together with stunting of growth, baldness, cataracts, depressed nasal bridge, and malformations of the teeth, nails and… …   Medical dictionary

  • síndrome de Rothmund-Thomson — Eng. Rothmund Thomson syndrome Ver catarata juvenil con poiquilodermia congénita …   Diccionario de oftalmología

  • Thomson disease — an autosomal recessive skin disorder similar to Rothmund Thomson syndrome except that saddle nose and cataract are not manifestations …   Medical dictionary

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