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:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 65UMLS, 22GeneTests, 67UniProtKB/Swiss-Prot, 24GTR, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Shprintzen-Goldberg Syndrome:

Name: Shprintzen-Goldberg Syndrome 49 11 21 45 23 51
Shprintzen-Goldberg Craniosynostosis Syndrome 21 45 22 23 67
Marfanoid Craniosynostosis Syndrome 45 22 51 67
Shprintzen-Goldberg Marfanoid Syndrome 21 45 22
Marfanoid-Craniosynostosis Syndrome 21 45 23
Craniosynostosis with Arachnodactyly and Abdominal Hernias 45 67
 
Goldberg-Shprintzen Syndrome 22 24
Sgs 51 67
Marfanoid Disorder with Craniosynostosis Type I 67
Marfanoid Disorder with Craniosynostosis Type 1 45
Goldberg-Shprintzen Megacolon Syndrome 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
shprintzen-goldberg syndrome:
Inheritance: Autosomal dominant,Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM49 182212
Orphanet51 2462
UMLS via Orphanet66 C1321551
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537328
MedGen34 C1321551

Summaries for Shprintzen-Goldberg Syndrome

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OMIM:49 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 mowat-wilson syndrome and craniosynostosis, and has symptoms including dolichocephaly, hypertelorism and micrognathia. An important gene associated with Shprintzen-Goldberg Syndrome is SKI (SKI Proto-Oncogene), and among its related pathways are TGF-beta Receptor Signaling Pathway and Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer. Affiliated tissues include skin, skeletal muscle and bone, and related mouse phenotypes are muscle and craniofacial.

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 Shprintzen-Goldberg craniosynostosis syndrome: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.

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:

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

Drugs & Therapeutics for Shprintzen-Goldberg Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

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 Syndrome22 24 SKI

Anatomical Context for Shprintzen-Goldberg Syndrome

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MalaCards organs/tissues related to Shprintzen-Goldberg Syndrome:

33
Skin, Skeletal muscle, Bone, Testes

Animal Models for Shprintzen-Goldberg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Shprintzen-Goldberg Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8FBN1, SKI, TGFB1
2MP:00053828.7FBN1, SKI, TGFB1

Publications for Shprintzen-Goldberg Syndrome

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Articles related to Shprintzen-Goldberg Syndrome:

(show all 28)
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: a clinical analysis. (9508238)
1998
19
Shprintzen-Goldberg syndrome. A case report. (9524609)
1997
20
P1148A in fibrillin-1 is not a mutation leading to Shprintzen- Goldberg syndrome. (9338588)
1997
21
Aortic root replacement for annuloaortic ectasia in Shprintzen-Goldberg syndrome: a case report. (9130129)
1997
22
Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11. (9255212)
1997
23
Shprintzen-Goldberg syndrome with osteopenia and progressive hydrocephalus. (9182791)
1997
24
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. (8563763)
1996
25
Radiographic findings in Shprintzen-Goldberg syndrome. (8929375)
1996
26
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. (7573130)
1995
27
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. (7573131)
1995
28
Shprintzen-Goldberg Syndrome (20301454)
1993

Variations for Shprintzen-Goldberg Syndrome

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

67 (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:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1KIF1BPNM_015634.3(KIF1BP): c.268C> T (p.Arg90Ter)single nucleotide variantPathogenicrs121434514GRCh37Chr 10, 70748856: 70748856
2KIF1BPNM_015634.3(KIF1BP): c.250G> T (p.Glu84Ter)single nucleotide variantPathogenicrs121434515GRCh37Chr 10, 70748838: 70748838
3KIF1BPNM_015634.3(KIF1BP): c.599C> A (p.Ser200Ter)single nucleotide variantPathogenicrs730882150GRCh37Chr 10, 70764875: 70764875
4KIF1BPNM_015634.3(KIF1BP): c.604_605delAG (p.Arg202Ilefs)deletionPathogenicrs730882151GRCh37Chr 10, 70764880: 70764881
5KIF1BPNC_000010.11deletionPathogenicGRCh38Chr 10, 68989259: 69005731
6SKINM_003036.3(SKI): c.347G> A (p.Gly116Glu)single nucleotide variantPathogenicrs387907303GRCh37Chr 1, 2160552: 2160552
7SKINM_003036.3(SKI): c.94C> G (p.Leu32Val)single nucleotide variantPathogenicrs387907304GRCh37Chr 1, 2160299: 2160299
8SKINM_003036.3(SKI): c.101G> A (p.Gly34Asp)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
9SKINM_003036.3(SKI): c.100G> A (p.Gly34Ser)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
10SKINM_003036.3(SKI): c.100G> T (p.Gly34Cys)single nucleotide variantPathogenicrs387907306GRCh37Chr 1, 2160305: 2160305
11SKINM_003036.3(SKI): c.283_291delGACCGCTCC (p.Asp95_Ser97del)deletionPathogenicrs398122889GRCh37Chr 1, 2160488: 2160496
12SKINM_003036.3(SKI): c.101G> T (p.Gly34Val)single nucleotide variantPathogenicrs387907305GRCh37Chr 1, 2160306: 2160306
13SKINM_003036.3(SKI): c.280_291delTCCGACCGCTCC (p.Ser94_Ser97del)deletionPathogenicrs398122914GRCh37Chr 1, 2160485: 2160496
14SKINM_003036.3(SKI): c.104C> A (p.Pro35Gln)single nucleotide variantPathogenicrs397514589GRCh37Chr 1, 2160309: 2160309
15SKINM_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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GO Terms for genes affiliated with Shprintzen-Goldberg Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1SMAD protein signal transductionGO:00603959.6SKI, TGFB1
2negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.6SKI, TGFB1
3cellular response to transforming growth factor beta stimulusGO:00715609.6FBN1, TGFB1
4face morphogenesisGO:00603259.5SKI, TGFB1
5transforming growth factor beta receptor signaling pathwayGO:00071799.4SKI, TGFB1
6camera-type eye developmentGO:00430109.2FBN1, SKI

Sources for Shprintzen-Goldberg Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet