SGS
MCID: SCH024
MIFTS: 43

Schinzel Giedion Syndrome (SGS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Fetal diseases, Cancer diseases categories
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Summaries for Schinzel Giedion Syndrome

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NIH Rare Diseases:42 Schinzel-giedion syndrome is a rare genetic syndrome. common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance. recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children. the underlying genetic defect that causes the condition has not yet been identified. last updated: 1/20/2009

MalaCards based summary: Schinzel Giedion Syndrome, also known as schinzel-giedion syndrome, is related to hydronephrosis and west syndrome, and has symptoms including large fontanelle/delayed fontanelle closure, frontal bossing/prominent forehead and narrow forehead. An important gene associated with Schinzel Giedion Syndrome is SETBP1 (SET binding protein 1). Affiliated tissues include bone, kidney and skin.

Genetics Home Reference:21 Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms of this condition include distinctive facial features, neurological problems, and organ and bone abnormalities. Because of their serious health problems, most affected individuals do not survive past childhood.

Description from OMIM:46 269150

Aliases & Classifications for Schinzel Giedion Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 22GTR, 48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Schinzel Giedion Syndrome, Aliases & Descriptions:

Name: Schinzel Giedion Syndrome 42 21
Schinzel-Giedion Syndrome 42 22 21 48 62
Schinzel-Giedion Midface Retraction Syndrome 21 46
 
Schinzel Giedion Midface-Retraction Syndrome 42 20
Sgs 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
schinzel-giedion syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

OMIM46 269150
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet63 C0265227

Related Diseases for Schinzel Giedion Syndrome

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Graphical network of the top 20 diseases related to Schinzel Giedion Syndrome:



Diseases related to schinzel giedion syndrome

Symptoms for Schinzel Giedion Syndrome

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Symptoms by clinical synopsis from OMIM:

269150

Clinical features from OMIM:

269150

Symptoms:

48 (show all 71)
  • large fontanelle/delayed fontanelle closure
  • frontal bossing/prominent forehead
  • narrow forehead
  • coarse face
  • hypertelorism
  • mid-facial hypoplasia/short/small midface
  • mild visual loss/impaired visual acuity
  • palpebral edema/periorbital edema
  • short/small nose
  • anteverted nares/nostrils
  • low set ears/posteriorly rotated ears
  • prominent/bat ears
  • sensorineural deafness/hearing loss
  • short neck
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • vesicorenal/vesicoureteral reflux
  • clitoris/labia majora/labia minora/female external genitalia hypoplasia
  • micropenis/small penis/agenesis
  • hypospadias/epispadias/bent penis
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • poorly ossified skull/calvarium
  • proptosis/exophthalmos
  • depressed nasal bridge
  • choanal atresia
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • excess nuchal skin without pterygium colli
  • anomalies of the ribs
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • terminal/third phalangeal bone of fingers hypoplasia
  • congenital cardiac anomaly/malformation/cardiopathy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • abnormal/absent ossification
  • bowed diaphysis/diaphyses/long bones
  • cortical anomaly/thick bone cortical layer
  • stillbirth/neonatal death
  • death in infancy
  • brachycephaly/flat occiput
  • wormian bones
  • micrognathia/retrognathia/micrognathism/retrognathism
  • corneal clouding/opacity/vascularisation
  • microcornea
  • congenital alacrimia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • strabismus/squint
  • clavicle absent/abnormal
  • scoliosis
  • sacrococcygeal teratoma
  • inguinal/inguinoscrotal/crural hernia
  • mesomelic micromelia
  • radioulnar synostosis
  • small hand/acromicria
  • metacarpal anomalies/archibald's sign
  • upper limb polydactyly/hexadactyly
  • camptodactyly of fingers
  • talipes-varus/metatarsal varus
  • pes talus
  • small foot
  • hirsutism/hypertrichosis/increased body hair
  • thin/hypoplastic/hyperconvex fingernails
  • laryngomalacia
  • megacalicosis
  • hypothyroidy
  • dilated cerebral ventricles without hydrocephaly
  • hypotonia
  • neoplasms/tumors
  • polyhydramnios

HPO human phenotypes related to Schinzel Giedion Syndrome:

(show all 123)
id Description Frequency HPO Source Accession
1 abnormality of female external genitalia hallmark (90%) HP:0000055
2 vesicoureteral reflux hallmark (90%) HP:0000076
3 malar flattening hallmark (90%) HP:0000272
4 coarse facial features hallmark (90%) HP:0000280
5 hypertelorism hallmark (90%) HP:0000316
6 narrow forehead hallmark (90%) HP:0000341
7 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
8 abnormality of the pinna hallmark (90%) HP:0000377
9 sensorineural hearing impairment hallmark (90%) HP:0000407
10 anteverted nares hallmark (90%) HP:0000463
11 short neck hallmark (90%) HP:0000470
12 visual impairment hallmark (90%) HP:0000505
13 seizures hallmark (90%) HP:0001250
14 hypertonia hallmark (90%) HP:0001276
15 frontal bossing hallmark (90%) HP:0002007
16 short nose hallmark (90%) HP:0003196
17 hypoplasia of penis hallmark (90%) HP:0008736
18 periorbital edema hallmark (90%) HP:0100539
19 cognitive impairment hallmark (90%) HP:0100543
20 displacement of the external urethral meatus hallmark (90%) HP:0100627
21 cryptorchidism typical (50%) HP:0000028
22 abnormality of the tongue typical (50%) HP:0000157
23 microcephaly typical (50%) HP:0000252
24 choanal atresia typical (50%) HP:0000453
25 thickened nuchal skin fold typical (50%) HP:0000474
26 proptosis typical (50%) HP:0000520
27 abnormality of the ribs typical (50%) HP:0000772
28 malformation of the heart and great vessels typical (50%) HP:0002564
29 abnormality of pelvic girdle bone morphology typical (50%) HP:0002644
30 abnormal cortical bone morphology typical (50%) HP:0003103
31 decreased skull ossification typical (50%) HP:0004331
32 abnormality of bone mineral density typical (50%) HP:0004348
33 depressed nasal bridge typical (50%) HP:0005280
34 bowing of the long bones typical (50%) HP:0006487
35 short distal phalanx of finger typical (50%) HP:0009882
36 micrognathia occasional (7.5%) HP:0000347
37 microcornea occasional (7.5%) HP:0000482
38 strabismus occasional (7.5%) HP:0000486
39 alacrima occasional (7.5%) HP:0000522
40 optic atrophy occasional (7.5%) HP:0000648
41 hypothyroidism occasional (7.5%) HP:0000821
42 abnormality of the clavicles occasional (7.5%) HP:0000889
43 hypertrichosis occasional (7.5%) HP:0000998
44 hand polydactyly occasional (7.5%) HP:0001161
45 abnormality of the metacarpal bones occasional (7.5%) HP:0001163
46 abnormality of the fingernails occasional (7.5%) HP:0001231
47 muscular hypotonia occasional (7.5%) HP:0001252
48 polyhydramnios occasional (7.5%) HP:0001561
49 laryngomalacia occasional (7.5%) HP:0001601
50 short foot occasional (7.5%) HP:0001773
51 rocker bottom foot occasional (7.5%) HP:0001838
52 talipes occasional (7.5%) HP:0001883
53 ventriculomegaly occasional (7.5%) HP:0002119
54 wormian bones occasional (7.5%) HP:0002645
55 scoliosis occasional (7.5%) HP:0002650
56 radioulnar synostosis occasional (7.5%) HP:0002974
57 micromelia occasional (7.5%) HP:0002983
58 short palm occasional (7.5%) HP:0004279
59 hernia of the abdominal wall occasional (7.5%) HP:0004299
60 opacification of the corneal stroma occasional (7.5%) HP:0007759
61 presacral teratoma occasional (7.5%) HP:0009793
62 camptodactyly of finger occasional (7.5%) HP:0100490
63 megacalicosis occasional (7.5%) HP:0100581
64 autosomal dominant inheritance HP:0000006
65 scrotal hypoplasia HP:0000046
66 hypospadias HP:0000047
67 micropenis HP:0000054
68 hypoplastic labia majora HP:0000059
69 hypoplastic labia minora HP:0000064
70 ureteral stenosis HP:0000071
71 hydroureter HP:0000072
72 hydronephrosis HP:0000126
73 macroglossia HP:0000158
74 malar flattening HP:0000272
75 coarse facial features HP:0000280
76 hypertelorism HP:0000316
77 facial hemangioma HP:0000329
78 sloping forehead HP:0000340
79 high forehead HP:0000348
80 low-set ears HP:0000369
81 choanal stenosis HP:0000452
82 anteverted nares HP:0000463
83 short neck HP:0000470
84 shallow orbits HP:0000586
85 bicornuate uterus HP:0000813
86 short sternum HP:0000879
87 broad ribs HP:0000885
88 long clavicles HP:0000890
89 thickened cortex of long bones HP:0000935
90 single transverse palmar crease HP:0000954
91 hypertrichosis HP:0000998
92 postaxial hand polydactyly HP:0001162
93 intellectual disability HP:0001249
94 seizures HP:0001250
95 failure to thrive HP:0001508
96 defect in the atrial septum HP:0001631
97 abnormality of the nasopharynx HP:0001739
98 talipes equinovarus HP:0001762
99 hyperconvex nail HP:0001795
100 cerebral atrophy HP:0002059
101 hypoplasia of the corpus callosum HP:0002079
102 ventriculomegaly HP:0002119
103 opisthotonus HP:0002179
104 hypsarrhythmia HP:0002521
105 hypoplastic nipples HP:0002557
106 wormian bones HP:0002645
107 sclerosis of skull base HP:0002694
108 hepatoblastoma HP:0002884
109 tibial bowing HP:0002982
110 short nose HP:0003196
111 widely patent fontanelles and sutures HP:0004492
112 depressed nasal bridge HP:0005280
113 metopic suture patent to nasal root HP:0005495
114 wide distal femoral metaphysis HP:0006387
115 increased density of long bones HP:0006392
116 hypoplasia of first ribs HP:0006657
117 postnatal growth retardation HP:0008897
118 aplasia/hypoplasia of the pubic bone HP:0009104
119 teratoma HP:0009792
120 short distal phalanx of finger HP:0009882
121 short 1st metacarpal HP:0010034
122 prominent forehead HP:0011220
123 midface retrusion HP:0011800

Drugs & Therapeutics for Schinzel Giedion Syndrome

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Drug clinical trials:

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Genetic Tests for Schinzel Giedion Syndrome

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Genetic tests related to Schinzel Giedion Syndrome:

id Genetic test Affiliating Genes
1 Schinzel-Giedion Midface Retraction Syndrome20 SETBP1
2 Schinzel-Giedion Syndrome22

Anatomical Context for Schinzel Giedion Syndrome

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MalaCards organs/tissues related to Schinzel Giedion Syndrome:

32
Bone, Kidney, Skin, Testes, Tongue, Brain

Animal Models for Schinzel Giedion Syndrome or affiliated genes

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Publications for Schinzel Giedion Syndrome

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Articles related to Schinzel Giedion Syndrome:

(show all 43)
idTitleAuthorsYear
1
Refractory Sacrococcygeal Germ Cell Tumor in Schinzel-Giedion Syndrome. (25171454)
2014
2
West Syndrome in a Patient With Schinzel-Giedion Syndrome. (25028416)
2014
3
Cobblestone lissencephaly in Schinzel-Giedion syndrome. (22532548)
2013
4
Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation. (23400866)
2013
5
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. (21507589)
2012
6
Unusual neuroradiological features in Schinzel-Giedion syndrome: a novel case. (22473152)
2012
7
Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. (21037274)
2011
8
SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome. (21371013)
2011
9
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. (20436468)
2010
10
SET(BP1)-ing the stage for a better understanding of Schinzel-Giedion syndrome. (20718797)
2010
11
Scoliosis in a case of Schinzel-Giedion syndrome. (19533249)
2009
12
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. (18398855)
2008
13
Clinical and radiological findings in Schinzel-Giedion syndrome. (18461363)
2008
14
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome. (17165030)
2007
15
Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. (16409612)
2005
16
Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis. (15122424)
2004
17
Schinzel-Giedion syndrome: a further cause of West syndrome. (12767465)
2003
18
Schinzel-Giedion syndrome and alacrima: a case first described in 1996. (12833418)
2003
19
Schinzel-Giedion syndrome with sacrococcygeal teratoma. (12847324)
2003
20
Schinzel-Giedion syndrome: interesting facial and orodental features, and dental management. (11853250)
2002
21
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. (11977181)
2002
22
Schinzel-Giedion syndrome. (11328425)
2001
23
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. (11285076)
2001
24
Schinzel-Giedion syndrome with severe deafness and neurodegenerative process. (10674163)
1999
25
Bilateral hydronephrosis due to megacalicosis as a prenatal sonographic finding in a female with Schinzel-Giedion syndrome. (10532180)
1999
26
Schinzel-Giedion syndrome: evidence for a neurodegenerative process. (10051170)
1999
27
Sacral tumors in Schinzel-Giedion syndrome. (9738870)
1998
28
Schinzel-Giedion syndrome: further delineation of the phenotype. (8723563)
1996
29
Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype. (8946113)
1996
30
A Croatian case of the Schinzel-Giedion syndrome. (8652084)
1996
31
Schinzel-Giedion syndrome: report of two sibs. (8849020)
1995
32
A patient with Schinzel-Giedion syndrome and a review of 20 patients. (7662999)
1995
33
Three new cases of the Schinzel-Giedion syndrome and review of the literature. (8160760)
1994
34
Schinzel-Giedion syndrome. A patient with hypothyroidism and diabetes insipidus. (7917131)
1994
35
Schinzel-Giedion syndrome: autopsy report and additional clinical manifestations. (7864048)
1994
36
Schinzel-Giedion syndrome. (7883373)
1994
37
Schinzel-Giedion syndrome and congenital megacalyces. (8516031)
1993
38
New finding of Schinzel-Giedion syndrome: a case with a malignant sacrococcygeal teratoma. (7506484)
1993
39
Schinzel-Giedion syndrome. (8319710)
1993
40
Neurosonography and pathology in the Schinzel-Giedion syndrome. (1920374)
1991
41
The Schinzel-Giedion syndrome. A case report and review of the literature. (2184969)
1990
42
The Schinzel-Giedion syndrome. (2407846)
1990
43
Congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation: the Schinzel-Giedion syndrome. (7086596)
1982

Variations for Schinzel Giedion Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Schinzel Giedion Syndrome:

64
id Symbol AA change Variation ID SNP ID
1SETBP1p.Asp868AlaVAR_063806
2SETBP1p.Asp868AsnVAR_063807
3SETBP1p.Gly870AspVAR_063808
4SETBP1p.Gly870SerVAR_063809
5SETBP1p.Ile871ThrVAR_063810

Clinvar genetic disease variations for Schinzel Giedion Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SETBP1NM_015559.2(SETBP1): c.2612T> C (p.Ile871Thr)single nucleotide variantPathogenicrs267607038GRCh37Chr 18, 42531917: 42531917
2SETBP1NM_015559.2(SETBP1): c.2602G> A (p.Asp868Asn)single nucleotide variantPathogenicrs267607042GRCh37Chr 18, 42531907: 42531907
3SETBP1NM_015559.2(SETBP1): c.2603A> C (p.Asp868Ala)single nucleotide variantPathogenicrs267607041GRCh37Chr 18, 42531908: 42531908
4SETBP1NM_015559.2(SETBP1): c.2609G> A (p.Gly870Asp)single nucleotide variantPathogenicrs267607039GRCh37Chr 18, 42531914: 42531914
5SETBP1NM_015559.2(SETBP1): c.2608G> A (p.Gly870Ser)single nucleotide variantPathogenicrs267607040GRCh37Chr 18, 42531913: 42531913

Expression for genes affiliated with Schinzel Giedion Syndrome

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Expression patterns in normal tissues for genes affiliated with Schinzel Giedion Syndrome

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Pathways for genes affiliated with Schinzel Giedion Syndrome

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Compounds for genes affiliated with Schinzel Giedion Syndrome

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GO Terms for genes affiliated with Schinzel Giedion Syndrome

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Products for genes affiliated with Schinzel Giedion Syndrome

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  • Antibodies
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Sources for Schinzel Giedion Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet