KEGG DISEASE: Laurin-Sandrow syndrome

KEGG

DISEASE: Laurin-Sandrow syndrome

Entry

H02333                      Disease

Name

Laurin-Sandrow syndrome

Description

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.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H02333  Laurin-Sandrow syndrome

Gene

(LSS) ZRS/LMBR1 [HSA:64327] [KO:K25217]

Comment

ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI

Title

Laurin-Sandrow syndrome: review and redefinition.

Journal

Am J Med Genet A 146A:2557-65 (2008)
DOI:10.1002/ajmg.a.32393

Reference

PMID:24456159 (LSS)

Authors

Lohan S, Spielmann M, Doelken SC, Flottmann R, Muhammad F, Baig SM, Wajid M, Hulsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E

Title

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

Journal

Clin Genet 86:318-25 (2014)
DOI:10.1111/cge.12352

LinkDB

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