Rothmund-Thomson syndrome

Orpha code: 2909OMIM code: 268400

Definicja

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

Disease data
Klasyfikacja

Disease

Synonimy
Poikiloderma of Rothmund-Thomson
Poikilodermia Rothmunda i Thomsona
RTS
RTS
Kod ORPHA
2909
Kod OMIM
268400
Kod ICD10
Q82.8
Kod ICD11
LD2B

No additional description.

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