Laurin-Sandrow syndrome

Term ID

DOID:0111350

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. (2)

References

• GARD:155
• MESH:C535689
• OMIM:135750
• ORDO:2378
• SNOMEDCT_US_2023_03_01:715440003
• UMLS_CUI:C1851100

Ontology

Human Disease   ( DOID:0111350 )