DISEASES

Disease-gene associations mined from literature

Human genes for Laurin-Sandrow syndrome

Laurin-Sandrow syndrome [DOID:0111350]

A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3.

Synonyms:  Laurin-Sandrow syndrome,  DOID:0111350,  LaurinSandrow syndrome,  Laurin-Sandrow disease,  Laurin-Sandrow disorder ...