Orphanet: Rothmund Thomson syndrome type 2

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Rothmund-Thomson syndrome type 2

Disease definition

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.

ORPHA:221016

Classification level: Subtype of disorder

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
ICD-11: LD2B
OMIM: 268400
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

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

Clinical description

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.

Etiology

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.

- Last update: February 2010

A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010)

Detailed information

Disease review articles

Review article
English (2010) - Orphanet J Rare Dis

Clinical genetics review
English (2020) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2012) - Eur J Hum Genet

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