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Rothmund-Thomson syndrome
rareRothmund-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.
- Identifiers
- MONDO:0010002 Orphanet:2909
- Part of
- Disorder of development or morphogenesisHereditary neoplastic syndromeHereditary photodermatosis
- Also known as
- poikiloderma congenitale · poikiloderma of Rothmund-Thomson · RTS
Subtypes
Rare disease
Projects
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