LSS
MCID: LRN006
MIFTS: 45

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 56 12 52 58 73 36 29 6 43 15 39 71
Tetramelic Mirror-Image Polydactyly 56 12 52 73 13
Sandrow Syndrome 56 12 52 58 73
Mirror-Image Polydactyly 56 12 58 73
Mirror Hands and Feet with Nasal Defects 56 52 73
Tmip 56 12 73
Mirror Hands and Feets-Nasal Defects Syndrome 12 58
Lss 56 73
Mip 56 73
Fibula and Ulna, Duplication of, with Absence of Tibia and Radius 56
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 52
Tetramelic Mirror-Image Polydactyly; Tmip 56
Miccor Hands and Feet with Nasal Defects 12
Laurin-Sandrow Syndrome, Segmental 71
Segmental Laurin-Sandrow Syndrome 73
Mirror-Image Polydactyly; Mip 56
Laurin Sandrow Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
laurin-sandrow syndrome
Inheritance: Autosomal dominant;

OMIM:

56
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 56 135750
KEGG 36 H02333
SNOMED-CT 67 715440003
MESH via Orphanet 44 C535689
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1851100
MedGen 41 C1851100
UMLS 71 C1851100 C1851101

Summaries for Laurin-Sandrow Syndrome

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).

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 211)
# Related Disease Score Top Affiliating Genes
1 holoprosencephaly 31.7 ZRS SHH LMBR1 GLI3
2 syndactyly, type iv 31.2 ZRS SHH LMBR1
3 polydactyly, preaxial ii 31.2 ZRS SHH LMBR1
4 hemimelia 30.7 ZRS PITX1 GLI3
5 tibial hemimelia 30.7 ZRS PITX1 GLI3
6 synostosis 30.4 SHH LMBR1 GLI3
7 chromosome 2q35 duplication syndrome 30.0 ZP2 SHH LMBR1 IQCE HOXD12 HOXD11
8 polydactyly 29.2 ZRS ZNF141 SHH PITX1 MIPOL1 LMBR1
9 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 13.1
10 cataract 15, multiple types 12.3
11 hypotrichosis 14 12.2
12 cataract 44 12.2
13 hypotrichosis 11.7
14 cataract 11.7
15 alopecia-mental retardation syndrome 4 11.7
16 alopecia 11.7
17 hypotrichosis simplex 11.6
18 diabetes insipidus, nephrogenic, autosomal 11.5
19 intraocular pressure quantitative trait locus 11.5
20 microphthalmia 11.5
21 cerulean cataract 11.5
22 spinal stenosis 11.5
23 spondylolisthesis 11.4
24 brain edema 11.4
25 meniere disease 11.3
26 myxoid liposarcoma 11.2
27 bullous keratopathy 11.2
28 presbyopia 11.2
29 inner ear disease 11.2
30 refractive error 11.2
31 hypotrichosis 2 11.1
32 palmoplantar keratoderma and congenital alopecia 2 11.1
33 rigid spine muscular dystrophy 1 11.1
34 bone deterioration disease 11.1
35 bone structure disease 11.1
36 alopecia-mental retardation syndrome 11.1
37 spondylolysis 11.1
38 hair disease 11.1
39 dysgraphia 11.1
40 pyriform sinus cancer 11.1
41 alopecia-intellectual disability syndrome 11.1
42 candida glabrata 11.1
43 hydrops, lactic acidosis, and sideroblastic anemia 11.1
44 autoimmune optic neuritis 11.1
45 eye accommodation disease 11.1
46 lens disease 11.1
47 mature cataract 11.1
48 hydrarthrosis 11.1
49 priapism 11.1
50 dysferlinopathy 11.1

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 34)
# 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 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
23 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
24 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
25 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
26 downturned corners of mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0002714
27 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
28 abnormality of the face 31 HP:0000271
29 hand polydactyly 31 HP:0001161
30 abnormality of the nose 58 Frequent (79-30%)
31 short foot 31 HP:0001773
32 broad foot 31 HP:0001769
33 patellar aplasia 31 HP:0006443
34 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.56 GLI3 HAND2 HOXD11 HOXD12 LMBR1 PITX1
2 skeleton MP:0005390 9.28 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

MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

40
Bone

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 56
24456159 2014
2
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. 61 6 56
16059937 2005
3
Laurin-Sandrow syndrome: review and redefinition. 61 56
18792985 2008
4
Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. 61 56
15389704 2004
5
Laurin-Sandrow syndrome with additional associated manifestations. 61 56
11169557 2001
6
Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13. 61 56
8986279 1997
7
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. 61 56
8733058 1996
8
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. 61 56
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. 56
11954550 2002
10
A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient. 56
9339355 1997
11
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet. 56
9099832 1997
12
Sandrow syndrome of mirror hands and feet and facial abnormalities. 56
8387243 1993
13
Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition. 56
8387244 1993
14
Hereditary ulnar and fibular dimelia with peculiar facies. A case report. 56
4314818 1970
15
BILATERAL ABSENCE OF THE RADIUS AND TIBIA WITH BILATERAL REDUPLICATION OF THE ULNA AND FIBULA. A CASE REPORT. 56
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 LMBR1 NM_022458.3(LMBR1):c.320-5565_423+10975dupduplication Pathogenic 157546 7:156578108-156594751 7:156785414-156802057
2 LMBR1 NC_000007.13:g.156563856_156610632dupduplication Pathogenic 157547 7:156563856-156610632 7:156771162-156817938
3 LMBR1 NC_000007.13:g.156570780_156646750dupduplication 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 SHH IQCE IFT52 GLI3
2
Show member pathways
10.23 SHH GLI3
3 9.58 SHH GLI3

GO Terms for Laurin-Sandrow Syndrome

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.1 ZNF141 SHH PITX1 HOXD12 HOXD11 HAND2
2 roof of mouth development GO:0060021 9.73 SHH HAND2 GLI3
3 smoothened signaling pathway GO:0007224 9.72 SHH IFT52 GLI3
4 heart looping GO:0001947 9.71 SHH IFT52 HAND2
5 odontogenesis of dentin-containing tooth GO:0042475 9.65 SHH HAND2 GLI3
6 spinal cord motor neuron differentiation GO:0021522 9.63 SHH GLI3
7 pattern specification process GO:0007389 9.63 SHH HOXD12 GLI3
8 positive regulation of neuroblast proliferation GO:0002052 9.62 SHH GLI3
9 embryonic morphogenesis GO:0048598 9.62 SHH GLI3
10 anatomical structure formation involved in morphogenesis GO:0048646 9.61 SHH GLI3
11 embryonic digestive tract morphogenesis GO:0048557 9.61 SHH GLI3
12 prostate gland development GO:0030850 9.6 SHH GLI3
13 tongue development GO:0043586 9.59 HAND2 GLI3
14 negative thymic T cell selection GO:0045060 9.58 SHH GLI3
15 positive regulation of alpha-beta T cell differentiation GO:0046638 9.58 SHH GLI3
16 artery development GO:0060840 9.57 SHH GLI3
17 branching involved in ureteric bud morphogenesis GO:0001658 9.54 SHH HOXD11 GLI3
18 negative regulation of metallopeptidase activity GO:1905049 9.52 TIMP2 TIMP1
19 negative regulation of membrane protein ectodomain proteolysis GO:0051045 9.51 TIMP2 TIMP1
20 spinal cord dorsal/ventral patterning GO:0021513 9.43 SHH GLI3
21 mesenchymal cell proliferation GO:0010463 9.4 SHH HAND2
22 limb morphogenesis GO:0035108 9.33 ZNF141 IQCE GLI3
23 hindgut morphogenesis GO:0007442 9.32 SHH GLI3
24 negative regulation of alpha-beta T cell differentiation GO:0046639 9.26 SHH GLI3
25 dorsal/ventral pattern formation GO:0009953 9.26 SHH IFT52 HOXD11 GLI3
26 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 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 PITX1 HOXD12 HOXD11 HAND2 GLI3 ETV7
2 metalloendopeptidase inhibitor activity GO:0008191 9.16 TIMP2 TIMP1
3 sequence-specific DNA binding GO:0043565 9.1 PITX1 HOXD12 HOXD11 HAND2 GLI3 ETV7

Sources for Laurin-Sandrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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