MCID: LRN006
MIFTS: 36

Laurin-Sandrow Syndrome

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

Aliases & Classifications for Laurin-Sandrow Syndrome

MalaCards integrated aliases for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 57 53 59 75 40 73
Tetramelic Mirror-Image Polydactyly 57 53 75 13
Sandrow Syndrome 57 53 59 75
Mirror Hands and Feet with Nasal Defects 57 53 75
Mirror-Image Polydactyly 57 59 75
Mirror Image Polydactyly 29 6
Tmip 57 75
Lss 57 75
Mip 57 75
Fibula and Ulna, Duplication of, with Absence of Tibia and Radius 57
Duplication of Fibula and Ulna with Absence of Tibia and Radius 75
Mirror Hands and Feets-Nasal Defects Syndrome 59
Fibula Ulna Duplication Tibia Radius Absence 53
Tetramelic Mirror-Image Polydactyly; Tmip 57
Laurin-Sandrow Syndrome, Segmental 73
Segmental Laurin-Sandrow Syndrome 75
Mirror-Image Polydactyly; Mip 57
Laurin Sandrow Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
laurin-sandrow syndrome
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
limb malformations are variable


HPO:

32
laurin-sandrow syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Laurin-Sandrow Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2378Disease definitionLaurin-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 polydactyly and clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone, and related phenotypes are hypertelorism and finger syndactyly

UniProtKB/Swiss-Prot : 75 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).

Description from OMIM: 135750

Related Diseases for Laurin-Sandrow Syndrome

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



Diseases related to Laurin-Sandrow Syndrome

Symptoms & Phenotypes for Laurin-Sandrow Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Laurin-Sandrow Syndrome:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
6 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
7 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
8 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
9 depressed nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000457
10 abnormality of the metacarpal bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0001163
11 downturned corners of mouth 59 32 occasional (7.5%) Occasional (29-5%) HP:0002714
12 preaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001177
13 triphalangeal thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0001199
14 toe syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001770
15 aplasia/hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0007370
16 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
17 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
18 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
19 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
20 short columella 59 32 frequent (33%) Frequent (79-30%) HP:0002000
21 abnormality of the wrist 59 32 frequent (33%) Frequent (79-30%) HP:0003019
22 absent radius 59 32 frequent (33%) Frequent (79-30%) HP:0003974
23 absent tibia 59 32 frequent (33%) Frequent (79-30%) HP:0009556
24 preaxial foot polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001841
25 fibular duplication 59 32 frequent (33%) Frequent (79-30%) HP:0010503
26 mirror image polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0010689
27 limb duplication 59 32 frequent (33%) Frequent (79-30%) HP:0100524
28 short foot 32 HP:0001773
29 abnormality of the face 32 HP:0000271
30 hand polydactyly 32 HP:0001161
31 abnormality of the nose 59 Frequent (79-30%)
32 broad foot 32 HP:0001769
33 patellar aplasia 32 HP:0006443
34 syndactyly 32 HP:0001159

MGI Mouse Phenotypes related to Laurin-Sandrow Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 LMBR1 PITX1 SHH

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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

Genetic Tests for Laurin-Sandrow Syndrome

Genetic tests related to Laurin-Sandrow Syndrome:

# Genetic test Affiliating Genes
1 Mirror Image Polydactyly 29 LMBR1

Anatomical Context for Laurin-Sandrow Syndrome

MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

41
Bone

Publications for Laurin-Sandrow Syndrome

Articles related to Laurin-Sandrow Syndrome:

# Title Authors Year
1
Early Surgical Correction of the Nasal Deformity in Laurin-Sandrow Syndrome. ( 28234639 )
2017
2
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. ( 24456159 )
2014
3
Male-to-male transmission of Laurin-Sandrow syndrome in a Mexican family. ( 24556604 )
2014
4
Laurin-Sandrow syndrome: review and redefinition. ( 18792985 )
2008
5
Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. ( 16059937 )
2005
6
Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome. ( 15389704 )
2004
7
Laurin-Sandrow syndrome with additional associated manifestations. ( 11169557 )
2001
8
Laurin-Sandrow syndrome--a surgical challenge. ( 10657454 )
2000
9
Mirror hands and feet: a further case of Laurin-Sandrow syndrome. ( 8733058 )
1996
10
Laurin-Sandrow syndrome (mirror hands and feet and nasal defects): description of a new case. ( 8064822 )
1994

Variations for Laurin-Sandrow Syndrome

ClinVar genetic disease variations for Laurin-Sandrow Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LMBR1 NM_022458.3(LMBR1): c.320-5565_423+10975dup duplication Pathogenic GRCh37 Chromosome 7, 156578108: 156594751
2 LMBR1 NM_022458.3(LMBR1): c.320-5565_423+10975dup duplication Pathogenic GRCh38 Chromosome 7, 156785414: 156802057
3 LMBR1 NC_000007.14: g.156771162_156817938dup duplication Pathogenic GRCh37 Chromosome 7, 156563856: 156610632
4 LMBR1 NC_000007.14: g.156771162_156817938dup duplication Pathogenic GRCh38 Chromosome 7, 156771162: 156817938
5 LMBR1 NC_000007.14: g.156778086_156854056dup duplication Pathogenic GRCh37 Chromosome 7, 156570780: 156646750
6 LMBR1 NC_000007.14: g.156778086_156854056dup duplication Pathogenic GRCh38 Chromosome 7, 156778086: 156854056

Expression for Laurin-Sandrow Syndrome

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

Pathways for Laurin-Sandrow Syndrome

GO Terms for Laurin-Sandrow Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 embryonic digit morphogenesis GO:0042733 8.96 LMBR1 SHH
2 embryonic hindlimb morphogenesis GO:0035116 8.62 PITX1 SHH

Sources for Laurin-Sandrow Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....