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Rothmund-Thomson syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description 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.
Uniprot Description Characterized by dermatological features such as atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism.
Mondo Term and Equivalent IDs
MONDO:0010002:  Rothmund-Thomson syndrome
GARD:0004392: 
MESH:D011038: 
NCIT:C3335: 
OMIMPS:268400: 
Orphanet:2909: 
SCTID:69093006: 
UMLS:C0032339: