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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 LMBR1 on chromosome 7q36.3.
https://www.ncbi.nlm.nih.gov/pubmed/24456159, https://www.ncbi.nlm.nih.gov/pubmed/4314818
Xrefs

GARD:155

MESH:C535689

OMIM:135750

ORDO:2378

SNOMEDCT_US_2020_09_01:715440003

UMLS_CUI:C1851100

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

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