triphalangeal thumb-polysyndactyly syndrome (TPTPS)

Pathology

• wide spectrum of pre-axial & post-axial abnormalities due to altered SHH expression pattern during limb development

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

More general terms

• skeletal dysplasia
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/174500