LSS
MCID: LRN006
MIFTS: 46

Laurin-Sandrow Syndrome (LSS)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Laurin-Sandrow Syndrome

MalaCards integrated aliases for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 57 12 20 58 73 36 29 6 44 15 39 71
Tetramelic Mirror-Image Polydactyly 57 12 20 73 13
Sandrow Syndrome 57 12 20 58 73
Mirror-Image Polydactyly 57 12 58 73
Mirror Hands and Feet with Nasal Defects 57 20 73
Tmip 57 12 73
Mirror Hands and Feets-Nasal Defects Syndrome 12 58
Lss 57 73
Mip 57 73
Fibula and Ulna, Duplication of, with Absence of Tibia and Radius 57
Mipduplication of Fibuland Ulna with Absence of Tibia and Radius 12
Duplication of Fibula and Ulna with Absence of Tibia and Radius 73
Fibula Ulna Duplication Tibia Radius Absence 20
Tetramelic Mirror-Image Polydactyly; Tmip 57
Miccor Hands and Feet with Nasal Defects 12
Laurin-Sandrow Syndrome, Segmental 71
Segmental Laurin-Sandrow Syndrome 73
Mirror-Image Polydactyly; Mip 57
Laurin Sandrow Syndrome 20

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:

31
laurin-sandrow syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111350
OMIM® 57 135750
KEGG 36 H02333
SNOMED-CT 67 715440003
MESH via Orphanet 45 C535689
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1851100
MedGen 41 C1851100
UMLS 71 C1851100 C1851101

Summaries for Laurin-Sandrow Syndrome

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).

Related Diseases for Laurin-Sandrow Syndrome

Diseases related to Laurin-Sandrow Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 433)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 31.7 ZRS SHH LMBR1 GLI3
2 polydactyly, preaxial ii 30.8 ZRS SHH LMBR1
3 tibial hemimelia 30.5 ZRS PITX1 GLI3
4 hemimelia 30.3 ZRS PITX1 GLI3 BHLHA9
5 synostosis 30.3 SHH LMBR1 GLI3 BHLHA9
6 clubfoot 29.8 PITX1 HOXD12 HOXD11
7 chromosome 2q35 duplication syndrome 29.8 ZP2 SHH LMBR1 IQCE HOXD12 HOXD11
8 syndactyly, type iv 29.3 ZRS ZP2 ZNF141 SHH LMBR1 IQCE
9 polydactyly 29.3 ZRS ZNF141 SHH PITX1 MIPOL1 LMBR1
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.9
11 cataract 15, multiple types 11.4
12 hypotrichosis 14 11.3
13 cataract 44 11.3
14 hypotrichosis 11.2
15 cataract 11.2
16 alopecia 11.1
17 brain edema 11.1
18 cystic fibrosis 11.1
19 alopecia-mental retardation syndrome 4 11.1
20 alopecia-mental retardation syndrome 11.0
21 diabetes insipidus, nephrogenic, autosomal 11.0
22 intraocular pressure quantitative trait locus 11.0
23 microphthalmia 11.0
24 meniere disease 11.0
25 bullous keratopathy 11.0
26 presbyopia 11.0
27 inner ear disease 11.0
28 refractive error 11.0
29 hypotrichosis simplex 10.9
30 myxoid liposarcoma 10.9
31 palmoplantar keratoderma and congenital alopecia 2 10.9
32 holoprosencephaly 1 10.9
33 frontometaphyseal dysplasia 1 10.9
34 candida glabrata 10.9
35 cerulean cataract 10.9
36 hydrops, lactic acidosis, and sideroblastic anemia 10.8
37 autoimmune optic neuritis 10.8
38 eye accommodation disease 10.8
39 immature cataract 10.8
40 lens disease 10.8
41 mature cataract 10.8
42 hydrarthrosis 10.8
43 priapism 10.8
44 dysferlinopathy 10.8
45 radial hemimelia 10.4 SHH LMBR1
46 spinal stenosis 10.3
47 mesomelia 10.3 ZRS LMBR1
48 myeloma, multiple 10.3
49 holoprosencephaly 3 10.3 ZRS SHH LMBR1
50 acheiropody 10.3 ZP2 SHH LMBR1

Graphical network of the top 20 diseases related to Laurin-Sandrow Syndrome:



Diseases related to Laurin-Sandrow Syndrome

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Human phenotypes related to Laurin-Sandrow Syndrome:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
2 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
3 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
4 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
5 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
6 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
7 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
8 preaxial foot polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001841
9 mirror image polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0010689
10 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
11 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
12 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
13 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
14 short columella 58 31 frequent (33%) Frequent (79-30%) HP:0002000
15 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
16 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
17 absent radius 58 31 frequent (33%) Frequent (79-30%) HP:0003974
18 absent tibia 58 31 frequent (33%) Frequent (79-30%) HP:0009556
19 fibular duplication 58 31 frequent (33%) Frequent (79-30%) HP:0010503
20 limb duplication 58 31 frequent (33%) Frequent (79-30%) HP:0100524
21 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
22 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
23 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
24 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
25 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
26 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
27 hypotonia 31 occasional (7.5%) HP:0001252
28 muscular hypotonia 58 Occasional (29-5%)
29 abnormality of the face 31 HP:0000271
30 hand polydactyly 31 HP:0001161
31 abnormality of the nose 58 Frequent (79-30%)
32 short foot 31 HP:0001773
33 broad foot 31 HP:0001769
34 patellar aplasia 31 HP:0006443
35 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Hands:
triphalangeal thumb
syndactyly
autopodial duplication, symmetrical
duplication of bones of the hand
dysplastic carpal bones
more
Skeletal Feet:
syndactyly
autopodial duplication, symmetrical
polydactyly, preaxial or postaxial
short, broad feet
dysplastic tarsal bones
more
Skeletal Limbs:
absent radius
absent tibia
fibular duplication
zeugopodial duplication, symmetrical
ulnar duplication
more
Head And Neck Nose:
hypoplastic alae nasi
cleft nares, bilateral
grooved columella

Clinical features from OMIM®:

135750 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.65 BHLHA9 GLI3 HAND2 HOXD11 HOXD12 IQCE
2 skeleton MP:0005390 9.32 GLI3 HAND2 HOXD11 HOXD12 IQCE LMBR1

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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

Cochrane evidence based reviews: laurin-sandrow syndrome

Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

# Genetic test Affiliating Genes
1 Laurin-Sandrow Syndrome 29 LMBR1

Anatomical Context for Laurin-Sandrow Syndrome

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

(show all 22)
# Title Authors PMID Year
1
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. 61 6 57
24456159 2014
2
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. 57 6 61
16059937 2005
3
Laurin-Sandrow syndrome: review and redefinition. 61 57
18792985 2008
4
Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. 61 57
15389704 2004
5
Laurin-Sandrow syndrome with additional associated manifestations. 61 57
11169557 2001
6
Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. 57 61
8986279 1997
7
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. 57 61
8733058 1996
8
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. 57 61
8064822 1994
9
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. 57
11954550 2002
10
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. 57
9339355 1997
11
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. 57
9099832 1997
12
Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. 57
8387244 1993
13
Sandrow syndrome of mirror hands and feet and facial abnormalities. 57
8387243 1993
14
Hereditary ulnar and fibular dimelia with peculiar facies. A case report. 57
4314818 1970
15
BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT. 57
14104303 1964
16
A variant form of Laurin-Sandrow syndrome in an adult patient. 61
31813304 2020
17
Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. 61
28234639 2017
18
Male-to-male transmission of Laurin-Sandrow syndrome in a Mexican family. 61
24556604 2014
19
A case report of bilateral mirror clubfeet and bilateral hand polydactyly. 61
25328478 2014
20
Polydactyly in the mouse mutant Doublefoot involves altered Gli3 processing and is caused by a large deletion in cis to Indian hedgehog. 61
18272352 2008
21
Laurin-Sandrow syndrome--a surgical challenge. 61
10657454 2000
22
A sporadic case of tetramelic mirror-image polydactyly and unilateral tibial hypoplasia without associated anomalies. 61
10473163 1999

Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZRS NM_022458.3(LMBR1):c.320-5565_423+10975dup Duplication Pathogenic 157546 7:156578108-156594751 7:156785414-156802057
2 ZRS NC_000007.13:g.156563856_156610632dup Duplication Pathogenic 157547 7:156563856-156610632 7:156771162-156817938
3 ZRS NC_000007.13:g.156570780_156646750dup Duplication Pathogenic 157548 7:156570780-156646750 7:156778086-156854056

Expression for Laurin-Sandrow Syndrome

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

Pathways for Laurin-Sandrow Syndrome

Pathways related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.1 SHH IQCE IFT52 GLI3
2 10.55 SHH IQCE GLI3
3
Show member pathways
10.43 SHH GLI3
4 9.91 SHH GLI3

GO Terms for Laurin-Sandrow Syndrome

Biological processes related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.16 ZNF141 SHH PITX1 HOXD12 HOXD11 HAND2
2 multicellular organism development GO:0007275 10.05 ZNF141 SHH PITX1 HOXD12 HOXD11 HAND2
3 smoothened signaling pathway GO:0007224 9.74 SHH IFT52 GLI3
4 roof of mouth development GO:0060021 9.71 SHH HAND2 GLI3
5 heart looping GO:0001947 9.7 SHH IFT52 HAND2
6 anatomical structure development GO:0048856 9.67 SHH HOXD11 GLI3
7 odontogenesis of dentin-containing tooth GO:0042475 9.65 SHH HAND2 GLI3
8 positive regulation of neuroblast proliferation GO:0002052 9.64 SHH GLI3
9 embryonic morphogenesis GO:0048598 9.63 SHH GLI3
10 spinal cord motor neuron differentiation GO:0021522 9.63 SHH GLI3
11 pattern specification process GO:0007389 9.63 SHH HOXD12 GLI3
12 anatomical structure formation involved in morphogenesis GO:0048646 9.62 SHH GLI3
13 embryonic digestive tract morphogenesis GO:0048557 9.61 SHH GLI3
14 prostate gland development GO:0030850 9.61 SHH GLI3
15 negative thymic T cell selection GO:0045060 9.6 SHH GLI3
16 tongue development GO:0043586 9.59 HAND2 GLI3
17 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 SHH GLI3
18 artery development GO:0060840 9.58 SHH GLI3
19 negative regulation of metallopeptidase activity GO:1905049 9.56 TIMP2 TIMP1
20 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.55 TIMP2 TIMP1
21 branching involved in ureteric bud morphogenesis GO:0001658 9.5 SHH HOXD11 GLI3
22 spinal cord dorsal/ventral patterning GO:0021513 9.43 SHH GLI3
23 mesenchymal cell proliferation GO:0010463 9.4 SHH HAND2
24 hindgut morphogenesis GO:0007442 9.37 SHH GLI3
25 limb morphogenesis GO:0035108 9.33 ZNF141 IQCE GLI3
26 negative regulation of alpha-beta T cell differentiation GO:0046639 9.26 SHH GLI3
27 dorsal/ventral pattern formation GO:0009953 9.26 SHH IFT52 HOXD11 GLI3
28 embryonic digit morphogenesis GO:0042733 9.1 SHH LMBR1 IFT52 HOXD12 HAND2 GLI3

Molecular functions related to Laurin-Sandrow Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 9.35 PITX1 HOXD12 HOXD11 HAND2 GLI3
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 ZNF141 PITX1 HOXD12 HOXD11 HAND2 GLI3
3 metalloendopeptidase inhibitor activity GO:0008191 9.16 TIMP2 TIMP1

Sources for Laurin-Sandrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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