Laurin-Sandrow Syndrome (LSS)

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Disease Ontology 12 DOID:0111350 OMIM 56 135750 KEGG 36 H02333 MeSH 43 C535689 D017880 SNOMED-CT 67 715440003 MESH via Orphanet 44 C535689

ICD10 via Orphanet 33 Q87.2 UMLS via Orphanet 72 C1851100 Orphanet 58 ORPHA2378 ORPHA498494 MedGen 41 C1851100 SNOMED-CT via HPO 68 118930001 194021007 204878001 205135003 205308004 22006008 228156007 230745008 247578003 249311009 249769001 263681008 268251006 27173008 32003007 32113001 34048007 34488005 373413006 398151007 398152000 398206004 398302004 398309008 445216006 81793007 91138005 more UMLS 71 C1851100 C1851101

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2378 Definition Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Visit the Orphanet disease page for more resources.

MalaCards based summary : Laurin-Sandrow Syndrome, also known as tetramelic mirror-image polydactyly, is related to holoprosencephaly and syndactyly, type iv. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1), and among its related pathways/superpathways are Signaling by Hedgehog and Hedgehog Signaling Pathway (WikiPathways). Affiliated tissues include bone, and related phenotypes are preaxial hand polydactyly and finger syndactyly

Disease Ontology : ¹² 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 (<80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3.

OMIM : ⁵⁶ Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014). (135750)

KEGG : ³⁶ Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located within intron 5 of LMBR1.

UniProtKB/Swiss-Prot : ⁷³ Laurin-Sandrow syndrome: A rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia. Some patients do not have nasal abnormalities (segmental Laurin-Sandrow syndrome).

Clinical features from OMIM:

135750

Search Clinical Trials , NIH Clinical Center for Laurin-Sandrow Syndrome

Search GEO for disease gene expression data for Laurin-Sandrow Syndrome.