MCID: LRN006
MIFTS: 32

Laurin-Sandrow Syndrome malady

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

Aliases & Classifications for Laurin-Sandrow Syndrome

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Sources:
50OMIM, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Laurin-Sandrow Syndrome:

Name: Laurin-Sandrow Syndrome 50 46 52 68 66
Tetramelic Mirror-Image Polydactyly 46 68 12
Sandrow Syndrome 46 52 68
Mirror Hands and Feet with Nasal Defects 46 68
Laurin Sandrow Syndrome 46 25
Duplication of Fibula and Ulna with Absence of Tibia and Radius 68
Mirror Hands and Feets-Nasal Defects Syndrome 52
 
Fibula Ulna Duplication Tibia Radius Absence 46
Segmental Laurin-Sandrow Syndrome 68
Mirror-Image Polydactyly 68
Tmip 68
Mip 68
Lss 68

Characteristics:

Orphanet epidemiological data:

52
laurin-sandrow syndrome:
Inheritance: Autosomal dominant

HPO:

62
laurin-sandrow syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 135750
Orphanet52 ORPHA2378
ICD10 via Orphanet29 Q87.2
MESH via Orphanet38 C535689
UMLS via Orphanet67 C1851100
MedGen35 C1851100
MeSH37 D017880

Summaries for Laurin-Sandrow Syndrome

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UniProtKB/Swiss-Prot:68 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).

MalaCards based summary: Laurin-Sandrow Syndrome, also known as tetramelic mirror-image polydactyly, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and cataract 15, multiple types, and has symptoms including abnormality of the metacarpal bones, preaxial hand polydactyly and toe syndactyly. An important gene associated with Laurin-Sandrow Syndrome is LMBR1 (Limb Development Membrane Protein 1). Affiliated tissues include bone.

Description from OMIM:50 135750

Related Diseases for Laurin-Sandrow Syndrome

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly12.6
2cataract 15, multiple types11.5
3cataract11.5
4cerulean cataract11.4
5diabetes insipidus, nephrogenic11.0
6bullous keratopathy11.0
7eye accommodation disease11.0
8lens disease11.0
9presbyopia11.0
10mature cataract11.0
11dysferlinopathy11.0
12cataract 16, multiple types10.8
13cataract 2510.8
14cataract 4410.8
15cataract, polymorphic and lamellar10.8
16early-onset nuclear cataract10.8
17polydactyly10.3
18patella aplasia/hypoplasia, bilateral9.9LMBR1, SHH
19multiple myeloma9.9
20myeloma9.9
21macrodactyly of fingers9.9LMBR1, SHH
22postaxial polydactyly type a, unilateral9.9LMBR1, SHH
23polysyndactyly, bilateral9.8LMBR1, SHH
24rheumatoid arthritis9.8
25hiv-19.8
26hodgkin lymphoma9.8
27renal cell carcinoma9.8
28leprosy9.8
29membranous nephropathy9.8
30arthritis9.8
31bipolar disorder9.8
32hepatitis9.8
33hereditary hemorrhagic telangiectasia9.8
34pulmonary fibrosis9.8
35posterior polar cataract9.8
36lymphoma9.8
37borderline leprosy9.8
38nephrotic syndrome9.8
39dermatitis9.8
40ischemia9.8
41atopic dermatitis9.8
42cerebritis9.8
43neuronitis9.8
44clear cell papillary renal cell carcinoma9.8
45tsc1-related lymphangioleiomyomatosis9.7LMBR1, SHH
46y-linked disease9.7LMBR1, SHH
47mckusick type metaphyseal dysplasia9.6LMBR1, SHH
48hydrocephalus9.5LSS, SHH
49laurin-sandrow syndrome9.5LMBR1, LSS, SHH
50syndactyly, type iv9.5LMBR1, LSS, SHH

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



Diseases related to laurin-sandrow syndrome

Symptoms for Laurin-Sandrow Syndrome

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Symptoms by clinical synopsis from OMIM:

135750

Clinical features from OMIM:

135750

Symptoms:

 52 (show all 28)
  • cryptorchidism
  • hydrocephalus
  • hypertelorism
  • abnormality of the nose
  • underdeveloped nasal alae
  • prominent nose
  • depressed nasal ridge
  • abnormality of the metacarpal bones
  • preaxial hand polydactyly
  • triphalangeal thumb
  • intellectual disability
  • muscular hypotonia
  • limitation of joint mobility
  • toe syndactyly
  • preaxial foot polydactyly
  • talipes
  • short columella
  • downturned corners of mouth
  • abnormality of the wrist
  • finger syndactyly
  • aplasia/hypoplasia of the corpus callosum
  • tarsal synostosis
  • absent tibia
  • aplasia/hypoplasia of the thumb
  • fibular duplication
  • mirror image polydactyly
  • absent radius
  • limb duplication

HPO human phenotypes related to Laurin-Sandrow Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormality of the metacarpal bones hallmark (90%) HP:0001163
2 preaxial hand polydactyly hallmark (90%) HP:0001177
3 toe syndactyly hallmark (90%) HP:0001770
4 preaxial foot polydactyly hallmark (90%) HP:0001841
5 finger syndactyly hallmark (90%) HP:0006101
6 tarsal synostosis hallmark (90%) HP:0008368
7 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
8 underdeveloped nasal alae typical (50%) HP:0000430
9 limitation of joint mobility typical (50%) HP:0001376
10 talipes typical (50%) HP:0001883
11 abnormality of the tibia typical (50%) HP:0002992
12 abnormality of the wrist typical (50%) HP:0003019
13 aplasia/hypoplasia of the radius typical (50%) HP:0006501
14 limb duplication typical (50%) HP:0100524
15 cryptorchidism occasional (7.5%) HP:0000028
16 hydrocephalus occasional (7.5%) HP:0000238
17 hypertelorism occasional (7.5%) HP:0000316
18 muscular hypotonia occasional (7.5%) HP:0001252
19 downturned corners of mouth occasional (7.5%) HP:0002714
20 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
21 cognitive impairment occasional (7.5%) HP:0100543
22 abnormality of the face HP:0000271
23 underdeveloped nasal alae HP:0000430
24 syndactyly HP:0001159
25 hand polydactyly HP:0001161
26 triphalangeal thumb HP:0001199
27 broad foot HP:0001769
28 short foot HP:0001773
29 absent radius HP:0003974
30 patellar aplasia HP:0006443
31 absent tibia HP:0009556
32 fibular duplication HP:0010503

Drugs & Therapeutics for Laurin-Sandrow Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Laurin-Sandrow Syndrome

Genetic Tests for Laurin-Sandrow Syndrome

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Genetic tests related to Laurin-Sandrow Syndrome:

id Genetic test Affiliating Genes
1 Laurin-Sandrow Syndrome25

Anatomical Context for Laurin-Sandrow Syndrome

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MalaCards organs/tissues related to Laurin-Sandrow Syndrome:

34
Bone

Animal Models for Laurin-Sandrow Syndrome or affiliated genes

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Publications for Laurin-Sandrow Syndrome

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Articles related to Laurin-Sandrow Syndrome:

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

Variations for Laurin-Sandrow Syndrome

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Clinvar genetic disease variations for Laurin-Sandrow Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMBR1NM_022458.3(LMBR1): c.320-5565_423+10975dupduplicationPathogenicGRCh38Chr 7, 156785414: 156802057
2LMBR1NG_009240.1: g.80271_127047dup46777duplicationPathogenicGRCh38Chr 7, 156771162: 156817938
3LMBR1NG_009240.1: g.44153_120123dup75971duplicationPathogenicGRCh38Chr 7, 156778086: 156854056

Expression for genes affiliated with Laurin-Sandrow Syndrome

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

Pathways for genes affiliated with Laurin-Sandrow Syndrome

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GO Terms for genes affiliated with Laurin-Sandrow Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1embryonic digit morphogenesisGO:00427339.1LMBR1, SHH

Sources for Laurin-Sandrow Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet