MCID: SHR120
MIFTS: 37

Short Rib-Polydactyly Syndrome, Majewski Type

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Short Rib-Polydactyly Syndrome, Majewski Type

MalaCards integrated aliases for Short Rib-Polydactyly Syndrome, Majewski Type:

Name: Short Rib-Polydactyly Syndrome, Majewski Type 53 59 29 6
Short Rib-Polydactyly Syndrome Type 2 53 59
Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 53
Polydactyly with Neonatal Chondrodystrophy Type 2 53
Short Rib-Polydactyly Syndrome Majewski Type 53
Short Rib-Polydactyly Syndrome Type Ii 53
Majewski Syndrome 53
Srps Type 2 53

Characteristics:

Orphanet epidemiological data:

59
short rib-polydactyly syndrome, majewski type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q77.2
UMLS via Orphanet 73 C0024507
Orphanet 59 ORPHA93269

Summaries for Short Rib-Polydactyly Syndrome, Majewski Type

MalaCards based summary : Short Rib-Polydactyly Syndrome, Majewski Type, also known as short rib-polydactyly syndrome type 2, is related to polydactyly, postaxial, type a1 and short-rib thoracic dysplasia 3 with or without polydactyly. An important gene associated with Short Rib-Polydactyly Syndrome, Majewski Type is NEK1 (NIMA Related Kinase 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Signaling by Hedgehog. Affiliated tissues include bone, and related phenotypes are cellular and growth/size/body region

Related Diseases for Short Rib-Polydactyly Syndrome, Majewski Type

Diseases related to Short Rib-Polydactyly Syndrome, Majewski Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 polydactyly, postaxial, type a1 30.4 EVC2 EVC
2 short-rib thoracic dysplasia 3 with or without polydactyly 29.5 WDR35 TTC21B NEK1 IFT80 EVC DYNC2LI1
3 polydactyly 29.2 WDR35 TTC21B NEK1 IFT172 EVC DYNC2LI1
4 short-rib thoracic dysplasia 6 with or without polydactyly 28.3 TTC21B TRAF3IP1 NEK1 IFT80 FUZ EVC2
5 cleft lip/palate 27.1 WDR35 TTC21B NEK1 IFT80 IFT172 DYNC2LI1
6 ellis-van creveld syndrome 26.9 WDR35 TTC21B NEK1 IFT80 EVC2 EVC
7 zerres rietschel majewski syndrome 12.3
8 lenz-majewski hyperostotic dwarfism 12.3
9 orofaciodigital syndrome iv 12.2
10 bosma arhinia microphthalmia syndrome 11.2
11 short-rib thoracic dysplasia 10 with or without polydactyly 10.8
12 short rib-polydactyly syndrome 10.8
13 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4
14 cleft lip 10.4
15 arachnoid cysts 10.4
16 dwarfism 10.4
17 pachygyria 10.4
18 weyers acrofacial dysostosis 10.3 EVC2 EVC
19 orofaciodigital syndrome 10.3
20 acrofacial dysostosis 10.3 EVC2 EVC
21 cleft palate, isolated 10.2
22 hyperostosis 10.2
23 chromosome 2q35 duplication syndrome 10.2
24 kidney disease 10.2
25 skeletal dysplasias 10.2
26 endosteal hyperostosis, autosomal dominant 10.2
27 hypertelorism 10.2
28 mohr syndrome 10.2
29 peeling skin syndrome 1 10.2
30 hydrocephalus 10.2
31 congenital hydrocephalus 10.2
32 atrioventricular septal defect 10.2 EVC2 EVC
33 orofaciodigital syndrome vi 10.1
34 alacrima, achalasia, and mental retardation syndrome 10.1
35 autosomal recessive disease 10.1
36 cutis laxa 10.1
37 clouston syndrome 10.1 EVC2 EVC
38 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
39 lacrimal duct defect 9.9
40 telecanthus 9.9
41 renal hypodysplasia/aplasia 1 9.9
42 joubert syndrome 1 9.9
43 cryptorchidism, unilateral or bilateral 9.9
44 calvarial hyperostosis 9.9
45 choanal atresia, posterior 9.9
46 joubert syndrome 18 9.9
47 brachydactyly 9.9
48 proximal symphalangism 9.9
49 scoliosis 9.9
50 inguinal hernia 9.9

Graphical network of the top 20 diseases related to Short Rib-Polydactyly Syndrome, Majewski Type:



Diseases related to Short Rib-Polydactyly Syndrome, Majewski Type

Symptoms & Phenotypes for Short Rib-Polydactyly Syndrome, Majewski Type

MGI Mouse Phenotypes related to Short Rib-Polydactyly Syndrome, Majewski Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 DYNC2H1 DYNC2LI1 EVC EVC2 FUZ IFT172
2 growth/size/body region MP:0005378 10.07 DYNC2H1 DYNC2LI1 EVC EVC2 FUZ IFT172
3 craniofacial MP:0005382 10.03 DYNC2H1 EVC EVC2 FUZ IFT172 IFT80
4 limbs/digits/tail MP:0005371 10.02 DYNC2H1 DYNC2LI1 EVC EVC2 FUZ IFT172
5 mortality/aging MP:0010768 9.96 DYNC2H1 DYNC2LI1 EVC EVC2 FUZ IFT172
6 embryo MP:0005380 9.95 DYNC2H1 DYNC2LI1 FUZ IFT172 TRAF3IP1 TTC21B
7 renal/urinary system MP:0005367 9.55 DYNC2H1 IFT172 IFT80 NEK1 TTC21B
8 respiratory system MP:0005388 9.35 DYNC2H1 FUZ IFT172 IFT74 WDR35
9 skeleton MP:0005390 9.28 DYNC2H1 EVC EVC2 FUZ IFT172 IFT80

Drugs & Therapeutics for Short Rib-Polydactyly Syndrome, Majewski Type

Search Clinical Trials , NIH Clinical Center for Short Rib-Polydactyly Syndrome, Majewski Type

Genetic Tests for Short Rib-Polydactyly Syndrome, Majewski Type

Genetic tests related to Short Rib-Polydactyly Syndrome, Majewski Type:

# Genetic test Affiliating Genes
1 Short Rib-Polydactyly Syndrome, Majewski Type 29 NEK1

Anatomical Context for Short Rib-Polydactyly Syndrome, Majewski Type

MalaCards organs/tissues related to Short Rib-Polydactyly Syndrome, Majewski Type:

41
Bone

Publications for Short Rib-Polydactyly Syndrome, Majewski Type

Articles related to Short Rib-Polydactyly Syndrome, Majewski Type:

(show all 18)
# Title Authors PMID Year
1
NEK1 mutations cause short-rib polydactyly syndrome type majewski. 38 71
21211617 2011
2
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. 71
28123176 2017
3
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 71
25492405 2015
4
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 71
23456818 2013
5
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 71
22499340 2012
6
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 71
19442771 2009
7
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 71
19361615 2009
8
Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). 38
20607029 2010
9
[Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases]. 38
19522446 2009
10
Short rib polydactyly syndrome - type 2 (Majewski). 38
18057685 2007
11
[Short rib-polydactyly syndrome, Majewski type]. 38
11057233 2000
12
Central nervous system alterations in a case of short-rib polydactyly syndrome, Majewski type. 38
8444329 1993
13
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study. 38
3130854 1987
14
Short rib-polydactyly syndrome (Majewski type): report of a case with autopsy findings. 38
4040899 1985
15
Short rib-polydactyly syndrome (Majewski type). 38
6676296 1983
16
Brief clinical report: short rib-polydactyly syndrome, Majewski type. 38
6859096 1983
17
Short rib-polydactyly syndrome, Majewski type. 38
7468649 1980
18
Short rib-polydactyly syndrome, Majewski type, in two male siblings. 38
478536 1979

Variations for Short Rib-Polydactyly Syndrome, Majewski Type

ClinVar genetic disease variations for Short Rib-Polydactyly Syndrome, Majewski Type:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEK1 NM_001199397.2(NEK1): c.214+1G> A single nucleotide variant other rs1049502301 4:170523158-170523158 4:169602007-169602007
2 NEK1 NM_001199397.2(NEK1): c.869-1G> T single nucleotide variant Pathogenic rs794727032 4:170498231-170498231 4:169577080-169577080
3 TTC21B NM_024753.5(TTC21B): c.2500C> T (p.Gln834Ter) single nucleotide variant Pathogenic rs79746977 2:166764256-166764256 2:165907746-165907746
4 TTC21B NM_024753.5(TTC21B): c.131C> A (p.Ala44Asp) single nucleotide variant Pathogenic rs1553516687 2:166806125-166806125 2:165949615-165949615
5 TRAF3IP1 NM_015650.4(TRAF3IP1): c.169G> A (p.Glu57Lys) single nucleotide variant Pathogenic rs769651861 2:239233992-239233992 2:238325351-238325351
6 TRAF3IP1 NM_015650.4(TRAF3IP1): c.988-1G> C single nucleotide variant Pathogenic rs372499275 2:239242600-239242600 2:238333959-238333959
7 IFT172 NM_015662.3(IFT172): c.2765dup (p.Tyr922Ter) duplication Pathogenic rs750338419 2:27682267-27682267 2:27459400-27459400
8 NEK1 NM_001199397.2(NEK1): c.1868del (p.Ser623fs) deletion Pathogenic rs1362848762 4:170428909-170428909 4:169507758-169507758
9 NEK1 NM_001199397.2(NEK1): c.1769_1770del (p.Arg590fs) deletion Pathogenic rs1554053289 4:170429462-170429463 4:169508311-169508312
10 NEK1 NM_001199397.2(NEK1): c.1618C> T (p.Arg540Ter) single nucleotide variant Pathogenic rs758677637 4:170459007-170459007 4:169537856-169537856
11 NEK1 NM_001199397.2(NEK1): c.1226G> A (p.Trp409Ter) single nucleotide variant Pathogenic rs985064686 4:170482671-170482671 4:169561520-169561520
12 NEK1 NM_001199397.2(NEK1): c.599_602del (p.Lys200fs) deletion Pathogenic rs1554075284 4:170508714-170508717 4:169587563-169587566
13 EVC2 NM_147127.5(EVC2): c.1708C> T (p.Gln570Ter) single nucleotide variant Pathogenic rs769864196 4:5633522-5633522 4:5631795-5631795
14 NEK1 NM_001199397.2(NEK1): c.2886-1G> A single nucleotide variant Pathogenic rs773496891 4:170347386-170347386 4:169426235-169426235
15 DYNC2H1 NM_001080463.2(DYNC2H1): c.10063+2T> G single nucleotide variant Pathogenic rs1261505725 11:103116105-103116105 11:103245376-103245376
16 FUZ NM_025129.5(FUZ): c.98_111+9del deletion Pathogenic rs548706733 19:50316244-50316266 19:49812987-49813009
17 NEK1 NM_001199397.2(NEK1): c.514C> T (p.Pro172Ser) single nucleotide variant Pathogenic rs1554075506 4:170509837-170509837 4:169588686-169588686
18 NEK1 NM_001199397.2(NEK1): c.3830A> C (p.Asp1277Ala) single nucleotide variant Pathogenic rs1157065841 4:170321393-170321393 4:169400242-169400242
19 EVC2 NM_147127.5(EVC2): c.1195C> T (p.Arg399Ter) single nucleotide variant Pathogenic rs137852924 4:5642516-5642516 4:5640789-5640789
20 EVC NM_153717.3(EVC): c.1886+5G> T single nucleotide variant Pathogenic rs794726665 4:5795449-5795449 4:5793722-5793722
21 EVC NM_153717.3(EVC): c.1018C> T (p.Arg340Ter) single nucleotide variant Pathogenic rs121908425 4:5749953-5749953 4:5748226-5748226
22 NEK1 NM_001199397.2(NEK1): c.379C> T (p.Arg127Ter) single nucleotide variant Pathogenic rs387906890 4:170511894-170511894 4:169590743-169590743
23 NEK1 NM_001199397.2(NEK1): c.869-2A> G single nucleotide variant Pathogenic rs483352906 4:170498232-170498232 4:169577081-169577081
24 NEK1 NM_001199397.2(NEK1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs431905508 4:170510629-170510629 4:169589478-169589478
25 NEK1 NM_001199397.2(NEK1): c.3107C> G (p.Ser1036Ter) single nucleotide variant Pathogenic/Likely pathogenic rs199947197 4:170345819-170345819 4:169424668-169424668
26 NEK1 NM_001199397.2(NEK1): c.2810_2813CAAA[1] (p.Asn938fs) short repeat Likely pathogenic rs752878896 4:170354764-170354767 4:169433613-169433616
27 NEK1 NM_001199397.2(NEK1): c.1992del (p.Val665fs) deletion Likely pathogenic rs775849720 4:170428203-170428203 4:169507052-169507052
28 EVC NM_153717.3(EVC): c.363C> A (p.Tyr121Ter) single nucleotide variant Likely pathogenic rs748523193 4:5731096-5731096 4:5729369-5729369
29 EVC NM_153717.3(EVC): c.901_903AAG[1] (p.Lys302del) short repeat Likely pathogenic rs755381180 4:5747033-5747035 4:5745306-5745308
30 TTC21B NM_024753.5(TTC21B): c.19_20insGCGGGTG (p.Lys7delinsSerGlyTer) insertion Likely pathogenic rs759648976 2:166810196-166810197 2:165953686-165953687
31 DYNC2H1 NM_001080463.2(DYNC2H1): c.10343T> C (p.Leu3448Pro) single nucleotide variant Likely pathogenic rs771487311 11:103126259-103126259 11:103255530-103255530
32 IFT80 NM_020800.3(IFT80): c.721G> C (p.Gly241Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs138004478 3:160073857-160073857 3:160356069-160356069
33 WDR35 NM_001006657.2(WDR35): c.206G> A (p.Gly69Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs765513105 2:20182232-20182232 2:19982471-19982471
34 NEK1 NM_001199397.2(NEK1): c.2235T> G (p.Asn745Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34324114 4:170398474-170398474 4:169477323-169477323
35 NEK1 NM_001199397.2(NEK1): c.1021G> A (p.Ala341Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs189186475 4:170483347-170483347 4:169562196-169562196
36 NEK1 NM_001199397.2(NEK1): c.782G> A (p.Arg261His) single nucleotide variant Conflicting interpretations of pathogenicity rs200161705 4:170506525-170506525 4:169585374-169585374
37 NEK1 NM_001199397.2(NEK1): c.3411G> A (p.Leu1137=) single nucleotide variant Conflicting interpretations of pathogenicity rs56077602 4:170322975-170322975 4:169401824-169401824
38 NEK1 NM_001199397.2(NEK1): c.1581T> C (p.Ala527=) single nucleotide variant Conflicting interpretations of pathogenicity rs184804243 4:170459044-170459044 4:169537893-169537893
39 NEK1 NM_001199397.2(NEK1): c.2278_2279CT[2] (p.Leu760_Ser761insTer) short repeat Uncertain significance rs750159428 4:170398426-170398427 4:169477275-169477276
40 NEK1 NM_001199397.2(NEK1): c.1925C> G (p.Ala642Gly) single nucleotide variant Uncertain significance 4:170428270-170428270 4:169507119-169507119
41 NEK1 NM_001199397.2(NEK1): c.1206T> G (p.Asn402Lys) single nucleotide variant Uncertain significance 4:170482691-170482691 4:169561540-169561540
42 NEK1 NM_001199397.2(NEK1): c.604G> T (p.Ala202Ser) single nucleotide variant Uncertain significance 4:170508712-170508712 4:169587561-169587561
43 NEK1 NM_001199397.2(NEK1): c.2687C> T (p.Ser896Phe) single nucleotide variant Uncertain significance 4:170359311-170359311 4:169438160-169438160
44 NEK1 NM_001199397.2(NEK1): c.2375G> A (p.Gly792Asp) single nucleotide variant Uncertain significance 4:170398334-170398334 4:169477183-169477183
45 NEK1 NM_001199397.2(NEK1): c.1063A> G (p.Arg355Gly) single nucleotide variant Uncertain significance 4:170483305-170483305 4:169562154-169562154
46 WDR35 NM_001006657.2(WDR35): c.1183A> T (p.Asn395Tyr) single nucleotide variant Uncertain significance rs143343508 2:20166496-20166496 2:19966735-19966735
47 DYNC2LI1 NM_016008.4(DYNC2LI1): c.394C> A (p.Gln132Lys) single nucleotide variant Uncertain significance rs76483206 2:44021669-44021669 2:43794530-43794530
48 IFT74 NM_025103.4(IFT74): c.120+2dup duplication Uncertain significance rs551515830 9:26962087-26962087 9:26962089-26962089
49 DYNC2H1 NM_001080463.2(DYNC2H1): c.12917G> A (p.Gly4306Glu) single nucleotide variant Uncertain significance rs770569272 11:103349953-103349953 11:103479225-103479225
50 NEK1 NM_001199397.2(NEK1): c.465-3T> C single nucleotide variant Uncertain significance rs760376432 4:170509889-170509889 4:169588738-169588738

Expression for Short Rib-Polydactyly Syndrome, Majewski Type

Search GEO for disease gene expression data for Short Rib-Polydactyly Syndrome, Majewski Type.

Pathways for Short Rib-Polydactyly Syndrome, Majewski Type

Pathways related to Short Rib-Polydactyly Syndrome, Majewski Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172
2
Show member pathways
12.24 WDR35 TTC21B IFT172 FUZ EVC2 EVC
3 10.9 DYNC2LI1 DYNC2H1
4 10.84 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172

GO Terms for Short Rib-Polydactyly Syndrome, Majewski Type

Cellular components related to Short Rib-Polydactyly Syndrome, Majewski Type according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.96 WDR35 TTC21B TRAF3IP1 NEK1 IFT80 FUZ
2 centrosome GO:0005813 9.91 WDR35 TRAF3IP1 NEK1 IFT80 IFT74 DYNC2LI1
3 cell projection GO:0042995 9.9 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172
4 ciliary basal body GO:0036064 9.8 WDR35 TRAF3IP1 IFT172 EVC DYNC2LI1
5 axoneme GO:0005930 9.77 WDR35 TRAF3IP1 IFT172 DYNC2LI1 DYNC2H1
6 motile cilium GO:0031514 9.67 IFT74 DYNC2LI1 DYNC2H1
7 cilium GO:0005929 9.65 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172
8 intraciliary transport particle B GO:0030992 9.62 TRAF3IP1 IFT80 IFT74 IFT172
9 ciliary membrane GO:0060170 9.55 EVC2 EVC
10 dynein complex GO:0030286 9.54 DYNC2LI1 DYNC2H1
11 ciliary transition zone GO:0035869 9.52 TRAF3IP1 DYNC2LI1
12 cytoplasmic dynein complex GO:0005868 9.51 DYNC2LI1 DYNC2H1
13 plasma membrane protein complex GO:0098797 9.48 EVC2 EVC
14 intraciliary transport particle A GO:0030991 9.46 WDR35 TTC21B
15 ciliary tip GO:0097542 9.23 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172

Biological processes related to Short Rib-Polydactyly Syndrome, Majewski Type according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 smoothened signaling pathway GO:0007224 9.77 TTC21B IFT80 IFT172 EVC2 EVC
2 determination of left/right symmetry GO:0007368 9.73 IFT74 IFT172 DYNC2LI1 DYNC2H1
3 heart development GO:0007507 9.72 IFT74 IFT172 DYNC2H1
4 non-motile cilium assembly GO:1905515 9.72 IFT80 IFT74 IFT172 FUZ DYNC2H1
5 cell projection organization GO:0030030 9.7 WDR35 TRAF3IP1 NEK1 IFT74 FUZ DYNC2LI1
6 negative regulation of epithelial cell proliferation GO:0050680 9.67 IFT80 IFT74 IFT172
7 protein localization to cilium GO:0061512 9.65 WDR35 TTC21B DYNC2H1
8 regulation of smoothened signaling pathway GO:0008589 9.63 TTC21B IFT172 FUZ
9 positive regulation of smoothened signaling pathway GO:0045880 9.58 IFT172 EVC DYNC2H1
10 protein processing GO:0016485 9.56 IFT172 DYNC2H1
11 intraciliary retrograde transport GO:0035721 9.56 WDR35 TTC21B DYNC2LI1 DYNC2H1
12 intraciliary transport involved in cilium assembly GO:0035735 9.56 WDR35 TTC21B TRAF3IP1 IFT80 IFT74 IFT172
13 dorsal/ventral pattern formation GO:0009953 9.54 IFT172 DYNC2H1
14 spinal cord motor neuron differentiation GO:0021522 9.52 IFT172 DYNC2H1
15 intraciliary transport GO:0042073 9.51 TRAF3IP1 IFT74
16 cilium assembly GO:0060271 9.28 WDR35 TRAF3IP1 NEK1 IFT80 IFT74 IFT172

Molecular functions related to Short Rib-Polydactyly Syndrome, Majewski Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 8.62 DYNC2LI1 DYNC2H1

Sources for Short Rib-Polydactyly Syndrome, Majewski Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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