Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Rothmund-Thomson syndrome type 2

ORPHA221016
Synonym(s) Poikiloderma of Rothmund-Thomson type 2
RTS2
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q82.8
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

Around 300 cases of RTS have been reported in the literature so far, with RTS2 accounting for around two-thirds of the cases.

The skeletal abnormalities may be overt (such as frontal bossing, saddle nose and congenital radial ray defects), and/or subtle anomalies visible only by radiographic analysis.

RTS is transmitted as an autosomal recessive trait and RTS2 is caused by homozygous or compound heterozygous mutations in the RECQL4 gene (8q24.3), whereas the etiology of RTS1 (see this term) remains unknown.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Review article
  • EN (2010)
Guidance for genetic testing
  • EN (2013,pdf)
Clinical genetics review
  • EN (2013)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.