Rothmund Thomson syndrome

Common Name(s)

Rothmund Thomson syndrome

Rothmund Thomson syndrome is a genetic condition that affects many parts of the body. It is characterized by distinctive abnormalities of the skin; sparse hair, eyelashes and/or eyebrows; small stature; skeletal and dental abnormalities; and an increased risk of developing osteosarcoma, a cancer of the bone. Rothmund Thomson syndrome is inherited in an autosomal recessive pattern. Mutations in the RECQL4 gene cause about two-thirds of all cases. In the other one-third of cases, the cause is unknown.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rothmund Thomson syndrome" for support, advocacy or research.

Rothmund-Thomson Syndrome Foundation

The purpose of this corporation is to: promote awareness of Rothmund-Thomson Syndrome (RTS) and related syndromes to the general public and to healthcare professionals; provide education and support to affected families worldwide; provide education to healthcare professionals who may encounter patients affected with these disorders; promote research aimed at understanding the molecular cellular basis of RTS and the clinical manifestations; and raise funds through events and contributions that will support the overall efforts of the group.

Last Updated: 19 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rothmund Thomson syndrome" for support, advocacy or research.

Rothmund-Thomson Syndrome Foundation

The purpose of this corporation is to: promote awareness of Rothmund-Thomson Syndrome (RTS) and related syndromes to the general public and to healthcare professionals; provide education and support to affected families worldwide; provide education to healthcare professionals who may encounter patients affected with these disorders; promote research aimed at understanding the molecular cellular basis of RTS and the clinical manifestations; and raise funds through events and contributions that will support the overall efforts of the group.

http://www.rtsplace.org/

Last Updated: 19 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rothmund Thomson syndrome" returned 29 free, full-text research articles on human participants. First 3 results:

Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome.
 

Author(s): M C van Rij, M L Grijsen, N M Appelman-Dijkstra, K B M Hansson, C A L Ruivenkamp, K Mulder, R van Doorn, A P Oranje, S G Kant

Journal: Eur. J. Pediatr.. 2017 Feb;176(2):279-283.

 

We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and skeletal abnormalities (COPS) syndrome. ...

Last Updated: 31 Dec 1969

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Dental management of Rothmund-Thomson syndrome with partial anodontia.
 

Author(s): Nilesh Vithaldas Rathi, Mayur Shrigopal Bhattad, Nilima Thosar, Sudhindra Baliga

Journal:

 

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive trait disease. It is characterised by skin, eye and skeletal abnormalities. Abnormalities associated with teeth include abnormal crown and root formations, rudimentary or hypoplastic teeth, microdontia and multiple missing ...

Last Updated: 31 Dec 1969

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Rothmund - Thomson syndrome with bronchiectasis: an uncommon phenotype?
 

Author(s): Vikram K Mahajan, Vikas Sharma, Pushpinder S Chauhan, Karaninder S Mehta, Rashmi Raina

Journal: Indian J Dermatol Venereol Leprol. ;81(2):190-2.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rothmund Thomson syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature.
 

Author(s): Ana Filipa Miranda, Maria Daniela Rivera-Monge, Charles Costa Farias

Journal: Arq Bras Oftalmol. ;79(3):186-8.

 

Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases ...

Last Updated: 31 Dec 1969

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Rothmund-Thomson syndrome.
 

Author(s): Lidia Larizza, Gaia Roversi, Ludovica Volpi

Journal:

 

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Familial Investigations of Childhood Cancer Predisposition
 

Status: Recruiting

Condition Summary: Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukaemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

 

Last Updated: 27 Oct 2017

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