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Rothman-Thomson syndrome
hereditary dermatosis
Genetics:
- some are caused by mutations in the RECQL4 gene
Clinical manifestations:
1) atrophy, pigmentation, & telangiectasia
2) juvenile cataract
3) saddle nose
4) congenital bone defects
5) disturbances of hair growth
6) hypogonadism
Management:
- prognosis for survival is fairly good
Related
ATP-dependent DNA helicase Q4; DNA helicase, recQ-like type 4; recQ4; RTS; recQ protein-like 4 (RECQL4, RECQ4)
General
progeroid syndrome
Database Correlations
OMIM 268400
References
OMIM :accession 268400