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triphalangeal thumb-polysyndactyly syndrome (TPTPS)
Genetics:
- autosomal dominant
- associated with defects in SHH
- TPTPS mutations have been mapped to the 7q36 locus in the LMBR1 gene which contains in its intron 5 a long-range cis-regulatory element of SHH expression
Pathology:
- wide spectrum of pre-axial & post-axial abnormalities due to altered SHH expression pattern during limb development
General
skeletal dysplasia
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 174500
References
OMIM :accession 174500