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 bone. The outlook (prognosis) for survival is generally fairly good. Rothmund-Thomson syndrome (RTS) is inherited as an autosomal recessive trait. A child born to parents each of whom has the RTS gene stands a 25% chance of receiving both RTS genes and the disease. The RTS gene has been mapped (charted) and is on chromosome 8. Alternative titles for RTS include poikiloderma congenita and poikiloderma atrophicans with cataract.

Medical dictionary. 2011.

Look at other dictionaries:

  • 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

  • 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

  • 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… …   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

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

  • Syndrome de baller-gerold — Pour les articles homonymes, voir Gérold. Syndrome de Baller Gerold …   Wikipédia en Français

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”