You are using an outdated browser. Please upgrade your browser to improve your experience.

Rothmund-Thomson syndrome type 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) 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.
Mondo Term and Equivalent IDs
MONDO:0016369:  Rothmund-Thomson syndrome type 2
Orphanet:221016: 
UMLS:CN201234: