Orphanet: Rothmund Thomson syndrome type 1

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Rothmund-Thomson syndrome type 1

Disease definition

Rothmund-Thomson syndrome type 1 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, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2 (see this term), patients with RTS1 do not appear to have an increased risk of developing cancer.

ORPHA:221008

Classification level: Subtype of disorder

Synonym(s):
- Poikiloderma of Rothmund-Thomson type 1
- RTS1
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: Q82.8
ICD-11: LD2B
OMIM: 268400 618625
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

Around 300 cases of RTS have been reported in the literature so far, with RTS1 accounting for around one-third of cases.

Etiology

RTS is transmitted in an autosomal recessive manner and although mutations in the RECQL4 gene have been found in patients with the RTS2 subform (see this term), the etiology of RTS1 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

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

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