Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Clinical subtype Synonyms Poikiloderma of Rothmund-Thomson type 2 Poikilodermia Rothmunda i Thomsona typu 2 RTS2 RTS2 ORPHA code 221016 OMIM code 268400 ICD10 code Q82.8 ICD11 code LD2B *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl