Version: 8.0.0
Date: Tue Jan 28 2025
Laurin-Sandrow syndrome
DOID:0111350
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • miccor hands and feet with nasal defects
  • MIPduplication of fibuland ulna with absence of tibia and radius
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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