Disease #00202

Official abbreviation SGS
Name Shprintzen-Goldberg craniosynostosis syndrome (SGS)
OMIM ID 182212
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 39
Phenotype entries for this disease 29
Associated with 1 gene SKI
Associated tissues -
Disease features -
Remarks -


Individuals

39 entries on 1 page. Showing entries 1 - 39.
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00002663 - - Shprintzen-Goldberg syndrome M no (Netherlands) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002664 - - Shprintzen-Goldberg syndrome F ? - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002665 - - Shprintzen-Goldberg syndrome M no - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002666 - - Shprintzen-Goldberg syndrome F no - - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002667 - - Shprintzen-Goldberg syndrome M - - - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002668 - - Shprintzen-Goldberg syndrome F - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002669 - - Shprintzen-Goldberg syndrome F - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002670 - - Shprintzen-Goldberg syndrome M - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002671 - - Shprintzen-Goldberg syndrome M - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002672 - - Shprintzen-Goldberg syndrome M - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00002673 - - Shprintzen-Goldberg syndrome F - - (not applicable) - - 0 - - SGS - SKI SKI 1 1 Dorien Schepers
00053031 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >43y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; no C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; no cleft palate; no club foot deformity; no arterial tortuosity; splenic artery aneurysm SKI SKI 1 1 Johan den Dunnen
00053032 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >6y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; noproptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; no C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; broad/bifid uvula; no club foot deformity; no arterial tortuosity; no other aneurysm SKI SKI 1 1 Johan den Dunnen
00053033 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >16y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; no ectopia lentis; no cleft palate; club foot deformity SKI SKI 1 1 Johan den Dunnen
00053034 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >12y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; no mitral valve prolapse; aortic root dilatation; no ectopia lentis; cleft palate; no cleft palate; no club foot deformity; no arterial tortuosity; no other aneurysm SKI SKI 1 1 Johan den Dunnen
00053035 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >22y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; no mitral valve prolapse; aortic root dilatation; no ectopia lentis; no cleft palate; no club foot deformity SKI SKI 1 1 Johan den Dunnen
00053036 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >21y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; noproptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; aortic root dilatation; no ectopia lentis; no cleft palate SKI SKI 1 1 Johan den Dunnen
00053037 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >2y 0 - - SGS craniosynostosis; no dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; no camptodactyly; scoliosis; pectus deformity; joint hypermobility; no joint contracture; hypotonia; developmental delay; aortic root dilatation; no ectopia lentis; cleft palate; no club foot deformity SKI SKI 1 1 Johan den Dunnen
00053038 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents M no - - >6y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; no camptodactyly; no scoliosis; no pectus deformity; joint hypermobility; joint contracture; hypotonia; developmental delay; no mitral valve prolapse; no aortic root dilatation; no ectopia lentis; cleft palate; club foot deformity; splenic artery aneurysm with spontaneous rupture (blank cells, not determined) SKI SKI 1 1 Johan den Dunnen
00053039 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >5y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; no scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; no aortic root dilatation; no ectopia lentis; no cleft palate; no broad/bifid uvula; no club foot deformity SKI SKI 1 1 Johan den Dunnen
00053040 - PubMed: Doyle 2014, Journal: Doyle 2014 2-generation family, 1 affected, unaffected parents F no - - >4y 0 - - SGS craniosynostosis; dolichocephaly; hypertelorism; down-slanting eyes; proptosis; malar hypoplasia; high/narrow palate; micrognathia; low set ears; arachnodactyly; camptodactyly; scoliosis; pectus deformity; joint hypermobility; joint contracture; C1/2 spine malformation; hypotonia; developmental delay; mitral valve prolapse; aortic root dilatation; dural ectasia; no ectopia lentis; no cleft palate; broad/bifid uvula; no club foot deformity; arterial tortuosity; no other aneurysm SKI SKI 1 1 Johan den Dunnen
00053043 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, father III4 M no - - >42y 0 - - SGS no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia SKI SKI 1 5 Johan den Dunnen
00053044 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 3 affecteds, twin sister II2 F no - - >22y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia SKI SKI 1 3 Johan den Dunnen
00053045 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >20y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053046 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, son IV2 F no - - >11y 0 - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia SKI SKI 1 1 Johan den Dunnen
00053047 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, aunt II1 F no - - 44y 0 - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia; 44y-died of respiratory insufficiency SKI SKI 1 1 Johan den Dunnen
00053048 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, niece III1 F no - - >13y 0 - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, no scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia SKI SKI 1 1 Johan den Dunnen
00053049 - PubMed: Carmignac 2014, Journal: Carmignac 2014 4-generation family, 7 affecteds, nephew III2 M no - - >14y 0 - - SGS no craniosynostosis, arachnodactyly, no pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, no hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053050 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, twin sister II3 F no - - >22y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia SKI SKI 1 1 Johan den Dunnen
00053051 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, sister II4 F no - - >20y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, myopia? SKI SKI 1 1 Johan den Dunnen
00053052 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents M no - - >18y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, aortic dilatation requiring surgery (16y, aortic root dilatation with Z score=7.014), vertebrobasilar and internal carotid tortuosity, dilated pulmonary-artery root, no myopia SKI SKI 1 1 Johan den Dunnen
00053053 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected mother/father not analysed M no - - >16y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, no proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, no hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053054 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >5y 0 - - SGS no craniosynostosis, arachnodactyly, pectus deformity, no scoliosis, no joint contractures, no camptodactyly, no foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053055 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - >21y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053056 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, unaffected non-carrier parents F no - - 10y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation upper normal limit, myopia; 10y died suddenly, autopsy showed severe mitral valve dysplasia with calcifications mitral annulus SKI SKI 1 1 Johan den Dunnen
00053057 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed F no - - >11y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, no scaphocephaly/dolichocephaly, no hypertelorism, proptosis, downslanting palpebral fissures, no micrognathia/retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053058 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed M no - - >32y 0 - - SGS no craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, mitral valve prolapse, mitral insufficiency, aortic root dilatation, myopia SKI SKI 1 1 Johan den Dunnen
00053059 - PubMed: Carmignac 2014, Journal: Carmignac 2014 2-generation family, 1 affected, parents not analysed M no - - >20y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, joint contractures, camptodactyly, foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI SKI 1 1 Johan den Dunnen
00053060 - PubMed: Carmignac 2014, Journal: Carmignac 2014 family M no - - >26y 0 - - SGS craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, camptodactyly, no foot malposition, scaphocephaly or dolichocephaly, hypertelorism, proptosis, no downslanting palpebral fissures, micrognathia or retrognathia, intellectual disability, hernias, no loss of subcutaneous fat, no valvular anomalies, no aortic root dilatation, no myopia SKI - 0 1 Johan den Dunnen
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