MCID: SHP002
MIFTS: 52

Shprintzen-Goldberg Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Shprintzen-Goldberg Syndrome

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Shprintzen-Goldberg Syndrome, Aliases & Descriptions:

Name: Shprintzen-Goldberg Syndrome 45 10 19 41 21 47
Shprintzen-Goldberg Craniosynostosis Syndrome 45 19 41 21
Marfanoid-Craniosynostosis Syndrome 19 41 21
Shprintzen-Goldberg Marfanoid Syndrome 19 41
Marfanoid Craniosynostosis Syndrome 41 47
 
Goldberg-Shprintzen Syndrome 20 22
Sgs 41 47
Craniosynostosis with Arachnodactyly and Abdominal Hernias 41
Marfanoid Disorder with Craniosynostosis Type 1 41
Goldberg-Shprintzen Megacolon Syndrome 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 182212
Orphanet47 2462
MESH via Orphanet34 C537328
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C1321551

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:45 Shprintzen-Goldberg syndrome is a disorder comprising craniosynostosis, a marfanoid habitus, and skeletal, neurologic,... (182212) more...

MalaCards based summary: Shprintzen-Goldberg Syndrome, also known as shprintzen-goldberg craniosynostosis syndrome, is related to craniosynostosis, syndromic and mowat-wilson syndrome, and has symptoms including abnormality of the palate, dolichocephaly and hypertelorism. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (v-ski avian sarcoma viral oncogene homolog), and among its related pathways are TGF-beta Receptor Signaling Pathway and Development TGF beta receptor signaling. The compounds hyaluronic acid and hydroxyproline have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and skeletal muscle, and related mouse phenotypes are craniofacial and muscle.

Genetics Home Reference:21 Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. Affected individuals have a combination of distinctive facial features and skeletal and neurological abnormalities.

GeneReviews summary for sgs

Related Diseases for Shprintzen-Goldberg Syndrome

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Graphical network of the top 20 diseases related to Shprintzen-Goldberg Syndrome:



Diseases related to shprintzen-goldberg syndrome

Symptoms for Shprintzen-Goldberg Syndrome

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Symptoms by clinical synopsis from OMIM:

182212

Clinical features from OMIM:

182212

Symptoms:

 47 (show all 55)
  • dolichocephaly/scaphocephaly
  • hypertelorism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • proptosis/exophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • telecanthus/canthal dystopy
  • high vaulted/narrow palate
  • low set ears/posteriorly rotated ears
  • long hand/arachnodactyly
  • flat foot
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • marfanoid morphotype
  • craniostenosis/craniosynostosis/sutural synostosis
  • frontal bossing/prominent forehead
  • high forehead
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • strabismus/squint
  • ptosis
  • pectus carinatum
  • pectus excavatum
  • scoliosis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • camptodactyly of some fingers
  • talipes-varus/metatarsal varus
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • communicating hydrocephaly
  • hyperextensible joints/articular hyperlaxity
  • microcephaly
  • large fontanelle/delayed fontanelle closure
  • myopia
  • anteverted nares/nostrils
  • prominent/bat ears
  • conductive deafness/hearing loss
  • narrow rib cage/thorax
  • rib number anomalies
  • abnormal vertebral size/shape
  • absent/hypotonic/flaccid abdominal wall muscles
  • genu valgum
  • hyperelastic skin/cutaneous hyperlaxity
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • apnea/sleep apnea
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • dilated cerebral ventricles without hydrocephaly
  • arnold-chiari anomaly
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • metaphyseal anomaly
  • bowed diaphysis/diaphyses/long bones
  • restricted joint mobility/joint stiffness/ankylosis
  • elbow dislocation
  • autosomal dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay

HPO human phenotypes related to Shprintzen-Goldberg Syndrome:

(show all 106)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 dolichocephaly hallmark (90%) HP:0000268
3 hypertelorism hallmark (90%) HP:0000316
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 downslanted palpebral fissures hallmark (90%) HP:0000494
7 telecanthus hallmark (90%) HP:0000506
8 proptosis hallmark (90%) HP:0000520
9 arachnodactyly hallmark (90%) HP:0001166
10 muscular hypotonia hallmark (90%) HP:0001252
11 disproportionate tall stature hallmark (90%) HP:0001519
12 pes planus hallmark (90%) HP:0001763
13 cognitive impairment hallmark (90%) HP:0100543
14 high palate 81.0811% HP:0000218
15 inguinal hernia 51.3514% HP:0000023
16 high forehead typical (50%) HP:0000348
17 strabismus typical (50%) HP:0000486
18 ptosis typical (50%) HP:0000508
19 pectus excavatum typical (50%) HP:0000767
20 pectus carinatum typical (50%) HP:0000768
21 communicating hydrocephalus typical (50%) HP:0001334
22 craniosynostosis typical (50%) HP:0001363
23 joint hypermobility typical (50%) HP:0001382
24 umbilical hernia typical (50%) HP:0001537
25 abnormality of the mitral valve typical (50%) HP:0001633
26 abnormality of the aortic valve typical (50%) HP:0001646
27 camptodactyly of toe typical (50%) HP:0001836
28 talipes typical (50%) HP:0001883
29 frontal bossing typical (50%) HP:0002007
30 scoliosis typical (50%) HP:0002650
31 camptodactyly of finger typical (50%) HP:0100490
32 cryptorchidism 10.8108% HP:0000028
33 cryptorchidism occasional (7.5%) HP:0000028
34 microcephaly occasional (7.5%) HP:0000252
35 abnormality of the pinna occasional (7.5%) HP:0000377
36 conductive hearing impairment occasional (7.5%) HP:0000405
37 anteverted nares occasional (7.5%) HP:0000463
38 myopia occasional (7.5%) HP:0000545
39 abnormality of the ribs occasional (7.5%) HP:0000772
40 narrow chest occasional (7.5%) HP:0000774
41 abnormality of the metaphyses occasional (7.5%) HP:0000944
42 hyperextensible skin occasional (7.5%) HP:0000974
43 limitation of joint mobility occasional (7.5%) HP:0001376
44 apnea occasional (7.5%) HP:0002104
45 ventriculomegaly occasional (7.5%) HP:0002119
46 arnold-chiari malformation occasional (7.5%) HP:0002308
47 genu valgum occasional (7.5%) HP:0002857
48 elbow dislocation occasional (7.5%) HP:0003042
49 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
50 reduced bone mineral density occasional (7.5%) HP:0004349
51 aplasia/hypoplasia of the abdominal wall musculature occasional (7.5%) HP:0010318
52 genu valgum rare (5%) HP:0002857
53 autosomal dominant inheritance HP:0000006
54 narrow palate HP:0000189
55 hydrocephalus HP:0000238
56 microcephaly HP:0000252
57 wide anterior fontanel HP:0000260
58 dolichocephaly HP:0000268
59 hypertelorism HP:0000316
60 hypoplasia of the maxilla HP:0000327
61 micrognathia HP:0000347
62 low-set, posteriorly rotated ears HP:0000368
63 abnormality of the pinna HP:0000377
64 conductive hearing impairment HP:0000405
65 anteverted nares HP:0000463
66 strabismus HP:0000486
67 downslanted palpebral fissures HP:0000494
68 telecanthus HP:0000506
69 ptosis HP:0000508
70 myopia HP:0000545
71 shallow orbits HP:0000586
72 dental malocclusion HP:0000689
73 pectus excavatum HP:0000767
74 pectus carinatum HP:0000768
75 thin ribs HP:0000883
76 hooked clavicles HP:0000895
77 osteopenia HP:0000938
78 hyperextensible skin HP:0000974
79 arachnodactyly HP:0001166
80 intellectual disability HP:0001249
81 muscular hypotonia HP:0001252
82 global developmental delay HP:0001263
83 craniosynostosis HP:0001363
84 joint laxity HP:0001388
85 umbilical hernia HP:0001537
86 mitral valve prolapse HP:0001634
87 aortic dilatation HP:0001724
88 talipes equinovarus HP:0001762
89 pes planus HP:0001763
90 metatarsus adductus HP:0001840
91 frontal bossing HP:0002007
92 gastroesophageal reflux HP:0002020
93 scoliosis HP:0002650
94 genu recurvatum HP:0002816
95 obstructive sleep apnea HP:0002870
96 metaphyseal widening HP:0003016
97 dislocated radial head HP:0003083
98 minimal subcutaneous fat HP:0003717
99 sporadic HP:0003745
100 supernumerary ribs HP:0005815
101 arnold-chiari type i malformation HP:0007099
102 c1-c2 vertebral abnormality HP:0008440
103 feeding difficulties in infancy HP:0008872
104 abdominal wall muscle weakness HP:0009023
105 joint contracture of the hand HP:0009473
106 camptodactyly HP:0012385

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Drug clinical trials:

Search ClinicalTrials for Shprintzen-Goldberg Syndrome

Search NIH Clinical Center for Shprintzen-Goldberg Syndrome

Genetic Tests for Shprintzen-Goldberg Syndrome

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Genetic tests related to Shprintzen-Goldberg Syndrome:

id Genetic test Affiliating Genes
1 Shprintzen-Goldberg Syndrome20 22 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

31
Skin, Bone, Skeletal muscle, Testes

Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.7FBN1, TGFB1, SKI
2MP:00053698.7SKI, TGFB1, FBN1
3MP:00053808.6SKI, TGFB1, FBN1
4MP:00053858.6FBN1, TGFB1, SKI
5MP:00053848.5SKI, TGFB1, FBN1
6MP:00053768.5TGFB1, FBN1, SKI
7MP:00036318.4SKI, TGFB1, FBN1
8MP:00053788.2FBN1, TGFB1, SKI

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 29)
idTitleAuthorsYear
1
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. (24736733)
2014
2
Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. (24611072)
2014
3
Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. (24397373)
2014
4
Double-valve surgery in Shprintzen-Goldberg syndrome. (24887819)
2014
5
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review. (24357594)
2013
6
Aberrant TGF-I^ signaling underlies the pathogenesis of aortic aneurysm in Shprintzen-Goldberg syndrome. (23330586)
2013
7
Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? (22653535)
2012
8
Germline mosacism in Shprintzen-Goldberg syndrome. (22639450)
2012
9
Mutations in the TGF-I^ repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (23023332)
2012
10
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (23103230)
2012
11
Surgical treatment for scoliosis in patients with Shprintzen-Goldberg syndrome. (21307714)
2011
12
Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2. (17979970)
2008
13
Overall intelligibility, language, articulation, voice and resonance characteristics in a child with Shprintzen-Goldberg syndrome. (17303258)
2007
14
Dysplasia of C-1 and craniocervical instability in patients with Shprintzen-Goldberg syndrome. Case report and review of the literature. (16970241)
2006
15
Molecular pathology of Shprintzen-Goldberg syndrome. (16333834)
2006
16
Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis. (15884042)
2005
17
Shprintzen-Goldberg syndrome with tetralogy of fallot and subvalvar aortic stenosis. (15840802)
2005
18
Shprintzen-Goldberg syndrome: case report. (12846610)
2003
19
Shprintzen-Goldberg syndrome: a clinical analysis. (9508238)
1998
20
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
21
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
22
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
23
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
24
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
25
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
26
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
27
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
28
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
29
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Shprintzen-Goldberg Syndrome:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1SKIp.Leu21ArgVAR_071170
2SKIp.Ser31LeuVAR_071171
3SKIp.Leu32ProVAR_071172
4SKIp.Leu32ValVAR_071173
5SKIp.Gly34CysVAR_071174
6SKIp.Gly34AspVAR_071175
7SKIp.Gly34SerVAR_071176
8SKIp.Gly34ValVAR_071177
9SKIp.Pro35GlnVAR_071178
10SKIp.Pro35SerVAR_071179
11SKIp.Gly116GluVAR_071182
12SKIp.Gly117ArgVAR_071183
13SKIp.Ser28ThrVAR_071659
14SKIp.Gly34AlaVAR_071660

Clinvar genetic disease variations for Shprintzen-Goldberg Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
2SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
3SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
4SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
5SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
6SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
7SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
8SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
9SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
10SKINM_003036.3(SKI): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs397514590GRCh37Chr 1, 2160308: 2160308

Expression for genes affiliated with Shprintzen-Goldberg Syndrome

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Search GEO for disease gene expression data for Shprintzen-Goldberg Syndrome.

Pathways for genes affiliated with Shprintzen-Goldberg Syndrome

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Pathways related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3TGFB1, SKI
29.3TGFB1, SKI
3
Show member pathways
9.3SKI, TGFB1
49.3SKI, TGFB1
59.3SKI, TGFB1
6
Show member pathways
9.3SKI, TGFB1
7
Show member pathways
9.1TGFB1, FBN1
8
Show member pathways
9.1TGFB1, FBN1
9
Show member pathways
9.1TGFB1, FBN1
10
Show member pathways
9.1TGFB1, FBN1

Compounds for genes affiliated with Shprintzen-Goldberg Syndrome

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1hyaluronic acid43 2410.1TGFB1, FBN1
2hydroxyproline43 24 1210.8TGFB1, FBN1
3tgf beta1438.5SKI, TGFB1, FBN1
4vitamin d438.4FBN1, TGFB1, SKI

GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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Cellular components related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1proteinaceous extracellular matrixGO:00055789.1TGFB1, FBN1

Biological processes related to Shprintzen-Goldberg Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1face morphogenesisGO:00603259.4SKI, TGFB1
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.4SKI, TGFB1
3transforming growth factor beta receptor signaling pathwayGO:00071799.3SKI, TGFB1
4negative regulation of transcription from RNA polymerase II promoterGO:00001229.3SKI, TGFB1
5negative regulation of cell proliferationGO:00082859.0SKI, TGFB1
6extracellular matrix organizationGO:00301989.0FBN1, TGFB1

Products for genes affiliated with Shprintzen-Goldberg Syndrome

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Sources for Shprintzen-Goldberg Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet