GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome Poikiloderma of Rothmund-Thomson at NIH's Office of Rare Diseases ( ... Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated ... Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak ... ISBN 978-0-7216-2921-6. Larizza, L.; Roversi, G.; Volpi, L. (Jan 2010). "Rothmund-Thomson syndrome". Orphanet Journal of Rare ...

... oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS (microphthalmia with linear skin defects) syndrome caused by ... The differential diagnosis of Setleis syndrome includes X-linked focal dermal hypoplasia, or Goltz syndrome; a syndrome of ... Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and ... Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). ...

Rothmund-Thomson syndrome. Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare disorder, generally attributed to ... Popadić S, Nikolić M, Gajić-Veljić M, Bonaci-Nikolić B (2006). "Rothmund-Thomson syndrome. The first case with plantar ... Gulliane-Barre syndrome is associated with peripheral neuropathies, and it has been found that anti-ganglioside autoantibodies ... Mauro A, Orsi L, Mortara P, Costa P, Schiffer D (1991). "Cerebellar syndrome in adult celiac disease with vitamin E deficiency ...

This disorder was to become known as the Rothmund-Thomson Syndrome; named in conjunction with British physician Matthew Sydney ... He was the son of noted surgeon Franz Christoph von Rothmund (1801-1891). In 1868 Rothmund was the first physician to describe ... a Japanese man who studied under Rothmund, after his mentor. Works by or about August von Rothmund at Internet Archive v t e ( ... August von Rothmund (August 1, 1830 - October 27, 1906) was a German ophthalmologist from Volkach, Lower Franconia. In 1853 he ...

Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ...

WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund-Thomson syndrome. These syndromes are ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... In humans, individuals with Rothmund-Thomson syndrome, and carrying the RECQL4 germline mutation, have several clinical ... "Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice". Cell Death Dis. 5 (5): ...

Rothmund-Thomson syndrome, Werner syndrome and Xeroderma pigmentosum. Although cancer syndromes exhibit an increased risk of ... A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, ... Lynch syndrome), Howel-Evans syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ...

In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes ... In the Rothmund-Thomson syndrome, the association of deficient RECQL4-mediated DNA repair and premature aging is consistent ... There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ...

Hutchinson-Gilford progeria syndrome) Rothmund-Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and ... "Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome". Clin. Orthop. Relat. Res. 378 (378): 213-23. doi: ...

"MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS". NCBI/OMIM. "MIM ID *134450 FACTOR VII REGULATOR; F7R". NCBI/OMIM. "MIM ID # ... Mosaic trisomy 8 has been reported in rare cases of Rothmund-Thomson syndrome, a genetic disorder associated with the DNA ... "MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME". NCBI/OMIM. U.S. National Library of Medicine: Warkany Syndrome 2 (Articles ... If the photograph shows 3 copies of chromosome 8 instead of 2, then the individual has trisomy 8. Warkany syndrome 1 Diseases ...

This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome. Most people with RAPADILINO syndrome have ... Yin J, Kwon YT, Varshavsky A, Wang W (October 2004). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, ... Rare syndromes, Syndromes affecting bones, DNA replication and repair-deficiency disorders, Syndromes affecting stature, All ... Patients with RAPADILINO syndrome are more likely to develop osteosarcoma or lymphoma. In those with RAPADILINO syndrome, ...

Rothmund-Thomson syndrome Epidermolysis bullosa List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, ... Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein ... Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems. ... Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare congenital disease of the ...

"OMIM Entry - # 216400 - COCKAYNE SYNDROME A; CSA". omim.org. Retrieved 2020-04-11. "Rothmund-Thomson syndrome". Genetics Home ... Rothmund-Thomson syndrome is a rare autosomal recessive disorder that affects the skin. It is characterized by the sparse hair ... Progeroid syndromes are genetic diseases that are linked to premature aging. Progeroid syndromes are characterized by having ... Werner syndrome, also known as "adult progeria", is another single-gene genetic disease. it is caused by a mutation in the wrn ...

Rothmund-Thomson syndrome, Kindler syndrome, dyskeratosis congenita, and chronic radiodermatitis. Rare causes include arsenic ... Among them, xeroderma pigmentosum and Rothmund-Thomson syndrome (poikiloderma congenita) are thought to be the most prominent. ... PVA fits within this updated view of parapsoriasis as a syndrome often associated with large plaque parapsoriasis and, or ... PVA is believed to be a syndrome closely associated with large-plaque parapsoriasis and its cohort retiform parapsoriasis; ...

With his predecessor August von Rothmund he gives his name to the skin condition, Rothmund-Thomson syndrome. He was ... Encyclopedia of Human Genetics and Disease, E B Kelly The Men Behind the Syndrome, P & G Beighton Biographical Index of Former ... The Men Behind the Syndrome, P & G Beighton The Medical Register 1969 v t e (Articles with short description, Short description ... Prof Matthew Sydney Thomson FRSE FRCPE (1894-1969) was a 20th-century British dermatologist. ...

The symptoms of Baller-Gerold syndrome overlap with features of a few other genetics disorders: Rothmund-Thomson syndrome and ... Baller-Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of ... Rare genetic syndromes, Syndromes affecting bones, Autosomal recessive disorders, Diseases named for discoverer). ... The name of the syndrome comes from the researchers Baller and Gerold who discovered the first three cases. The most common and ...

Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ... Johanson-Blizzard syndrome)" (PDF). Nat. Genet. 37 (12): 1345-50. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042. Matta- ...

Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ... Mutations in this gene have been associated with Johanson-Blizzard syndrome. GRCh38: Ensembl release 89: ENSG00000159459 - ... Johanson-Blizzard syndrome)" (PDF). Nat. Genet. 37 (12): 1345-50. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042. Sasaki T, ...

... are associated with the clinical entities Werner syndrome and Rothmund-Thomson syndrome, respectively. More broadly, Bloom ... Progeroid syndromes, Syndromes with tumors, Syndromes affecting stature, Diseases named for discoverer). ... Bloom syndrome has also appeared in the older literature as Bloom-Torre-Machacek syndrome. The most prominent feature of Bloom ... German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007). "Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome ...

... father of August von Rothmund Toni Rothmund (1877-1956), German writer and journalist Rothmund-Thomson syndrome (RTS), an ... August von Rothmund (1830-1906), German ophthalmologist; son of Franz Christoph von Rothmund Franz Christoph von Rothmund (1801 ... Rothmund is a German surname, derived from the Germanic male given name Hrodmund, from hrod meaning "fame" (found in names such ... abnormal condition of the skin This page lists people with the surname Rothmund. If an internal link intending to refer to a ...

Li-Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma development. Rothmund-Thomson syndrome ...

Nbs1 Nijmegen breakage syndrome, RecQL4 Rothmund-Thomson syndrome, c-Myc oncogene and FANC proteins (Fanconi anemia). Xenopus ... Long-QT syndrome) and Megalencephalic leukoencephalopathy. Gene editing by the CRISPR/CAS system has recently been demonstrated ... "A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium ...

Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively. On ...

For example, each of the cancer-related diseases Bloom syndrome, Werner syndrome and Rothmund-Thomson syndrome are caused by ... Down's syndrome, which is caused by an extra copy of chromosome 21, is one of many abnormalities that result from such a ... In the cells of Bloom's syndrome patients, who lack a working copy of the BLM protein, there is an elevated rate of homologous ...

Hutchinson-Gilford progeria syndrome Rothmund-Thomson syndrome Werner syndrome Bloom syndrome Cockayne syndrome Xeroderma ... Seckel syndrome Ataxia telangiectasia Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Néstor-Guillermo progeria syndrome ... Progeroid syndromes are all examples of aging diseases where cell senescence appears to be implicated. ... Carrero D, Soria-Valles C, López-Otín C (July 2016). "Hallmarks of progeroid syndromes: lessons from mice and reprogrammed ...

Rothmund-Thomson syndrome MeSH C17.800.827.820 - Sjögren-Larsson syndrome MeSH C17.800.827.970 - xeroderma pigmentosum MeSH ... Rothmund-Thomson syndrome MeSH C17.800.804.812 - sclerema neonatorum MeSH C17.800.804.936 - xeroderma pigmentosum MeSH C17.800. ... Tietze syndrome MeSH C17.300.200.310 - Ehlers-Danlos syndrome MeSH C17.300.200.425 - keloid MeSH C17.300.200.425.125 - acne ... Felty's syndrome MeSH C17.300.775.099.683 - rheumatoid nodule MeSH C17.300.775.099.774 - Sjögren syndrome MeSH C17.300.775.099. ...

Rothmund-Thomson syndrome and microphthalmia with linear skin defects (also known as MLS) syndrome because they are all caused ... Goltz syndrome is a very rare diagnosis. To date, there are fewer than 25 cases of Goltz syndrome in the United States. ... The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to ... Besides its formal name, it is most commonly referred to as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin. Goltz ...

... syndrome Rothmund-Thomson syndrome Rotor syndrome Roussy-Lévy syndrome Rubinstein-Taybi syndrome Rud syndrome Rudiger syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...

SRPX2 Rothmund-Thomson syndrome; 268400; RECQL4 Roussy-Lévy syndrome; 180800; MPZ Roussy-Lévy syndrome; 180800; PMP22 ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...

Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ... MELAS syndrome MeSH C18.452.100.100.540 - Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.648.151.450 - menkes kinky hair syndrome MeSH C18.452.648.151.505 - MERRF syndrome MeSH C18.452. ... Prader-Willi syndrome MeSH C18.654.940.520 - hiv wasting syndrome The list continues at List of MeSH codes (C19). (Wikipedia ...