| Metadata | |
|---|---|
| ID | DOID:0111350 |
| Name | Laurin-Sandrow syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/24456159, https://www.ncbi.nlm.nih.gov/pubmed/4314818 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715440003 |
| Subsets |
DO_rare_slim |
| Synonyms |
miccor hands and feet with nasal defects [EXACT] MIPduplication of fibuland ulna with absence of tibia and radius [EXACT] mirror hands and feets-nasal defects syndrome [EXACT] mirror-image polydactyly [EXACT] Sandrow syndrome [EXACT] tetramelic mirror-image polydactyly [EXACT] TMIP [EXACT] |
| Parent Relationships |
is_a dysostosis |