Term Name: | Laurin-Sandrow syndrome |
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Synonyms: | miccor hands and feet with nasal defects, MIPduplication of fibuland ulna with absence of tibia and radius, mirror hands and feets-nasal defects syndrome, mirror-image polydactyly, Sandrow syndrome, tetramelic mirror-image polydactyly, TMIP |
Definition: | 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 the LMBR1 gene on chromosome 7q36.3. |
Ontology: | Human Disease [DOID:0111350] ( DOID:0111350 ) |