|
LSS
MCID: LRN006
MIFTS: 46
|
Laurin-Sandrow Syndrome (LSS)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Laurin-Sandrow Syndrome:
Characteristics:Orphanet epidemiological data:58
laurin-sandrow syndrome
Inheritance: Autosomal dominant; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
limb malformations are variable HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
|
|
GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2378DefinitionLaurin-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 polydactyly, preaxial ii. 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 (KEGG). 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 (less than 80kb) duplications in a SHH regulatory element located in intron 5 of LMBR1 on chromosome 7q36.3. OMIM® : 57 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) (Updated 05-Mar-2021) 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). |
Human phenotypes related to Laurin-Sandrow Syndrome:58 31 (show all 35)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:135750 (Updated 05-Mar-2021) |
|
Cochrane evidence based reviews: laurin-sandrow syndrome |
Articles related to Laurin-Sandrow Syndrome:(show all 22)
|
Genes related to Laurin-Sandrow Syndrome (3 elite genes):(show all 24) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Laurin-Sandrow Syndrome:6
|
|
Search
GEO
for disease gene expression data for Laurin-Sandrow Syndrome.
|
Biological processes related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:(show all 28)
Molecular functions related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:
|
|