OBO ID: DOID:0111350
Term Name: Laurin-Sandrow syndrome Search Ontology:
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 LMBR1 on chromosome 7q36.3. (2)
References:
Ontology: Human Disease   (DOID:0111350)
Relationships
is a type of:
OTHER Laurin-Sandrow syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LMBR1 Laurin-Sandrow syndrome 135750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None