Schinzel-Giedion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SGS
Number of Symptoms 128
OrphanetNr: 798
OMIM Id: 269150
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
2
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
3
 (HPO:0000586) Shallow orbits 23 / 7739
4
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
5
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
6
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
7
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
8
 (HPO:0000522) Alacrima Occasional [Orphanet] 14 / 7739
9
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
10
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
11
 (HPO:0001508) Failure to thrive 454 / 7739
12
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
13
 (HPO:0001631) Atria septal defect 274 / 7739
14
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
15
 (HPO:0000158) Macroglossia Frequent [Orphanet] 119 / 7739
16
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
17
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0002179) Opisthotonus 35 / 7739
20
 (HPO:0001249) Intellectual disability 1089 / 7739
21
 (HPO:0002521) Hypsarrhythmia 43 / 7739
22
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
23
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
24
 (HPO:0006487) Bowing of the long bones Frequent [Orphanet] 95 / 7739
25
 (HPO:0002982) Tibial bowing 36 / 7739
26
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
27
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
28
 (HPO:0010034) Short 1st metacarpal 19 / 7739
29
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
30
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
31
 (HPO:0100259) Postaxial polydactyly 85 / 7739
32
 (HPO:0006387) Wide distal femoral metaphysis 1 / 7739
33
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
34
 (HPO:0001773) Short foot Occasional [Orphanet] 86 / 7739
35
 (HPO:0001838) Rocker bottom foot Occasional [Orphanet] 85 / 7739
36
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
37
 (HPO:0009104) Aplasia/Hypoplasia of the pubic bone 2 / 7739
38
 (HPO:0002974) Radioulnar synostosis Occasional [Orphanet] 52 / 7739
39
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
40
 (HPO:0000954) Single transverse palmar crease 162 / 7739
41
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
42
 (HPO:0003027) Mesomelia Occasional [Orphanet] 58 / 7739
43
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
44
 (HPO:0000248) Brachycephaly Occasional [Orphanet] 222 / 7739
45
 (HPO:0005495) Metopic suture patent to nasal root 1 / 7739
46
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
47
 (HPO:0002694) Sclerosis of skull base 10 / 7739
48
 (HPO:0004331) Decreased skull ossification Frequent [Orphanet] 31 / 7739
49
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
50
 (HPO:0000348) High forehead 157 / 7739
51
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
52
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
53
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
54
 (HPO:0011220) Prominent forehead 137 / 7739
55
 (HPO:0000340) Sloping forehead 86 / 7739
56
 (HPO:0002645) Wormian bones Occasional [Orphanet] 65 / 7739
57
 (HPO:0000890) Long clavicles 13 / 7739
58
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
59
 (HPO:0000885) Broad ribs 21 / 7739
60
 (HPO:0000879) Short sternum 16 / 7739
61
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
62
 (HPO:0002557) Hypoplastic nipples 33 / 7739
63
 (HPO:0006657) Hypoplasia of first ribs 3 / 7739
64
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
65
 (MedDRA:10059810) Sacrococcygeal teratoma 1 / 7739
66
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
67
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
68
 (HPO:0011849) Abnormal bone ossification Frequent [Orphanet] 35 / 7739
69
 (HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
70
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
71
 (HPO:0006392) Increased density of long bones 1 / 7739
72
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
73
 (HPO:0000998) Hypertrichosis 52 / 7739
74
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
75
 (HPO:0001795) Hyperconvex nail 13 / 7739
76
 (HPO:0002884) Hepatoblastoma 11 / 7739
77
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
78
 (HPO:0000059) Hypoplastic labia majora 22 / 7739
79
 (HPO:0000064) Hypoplastic labia minora 7 / 7739
80
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
81
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
82
 (HPO:0000046) Scrotal hypoplasia 54 / 7739
83
 (HPO:0000813) Bicornuate uterus 22 / 7739
84
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
85
 (HPO:0009792) Teratoma Occasional [Orphanet] 7 / 7739
86
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
87
 (HPO:0000272) Malar flattening 277 / 7739
88
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
89
 (HPO:0000329) Facial hemangioma 5 / 7739
90
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
91
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
92
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
93
 (HPO:0000452) Choanal stenosis 23 / 7739
94
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
95
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
96
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
97
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
98
 (HPO:0005989) Redundant neck skin Frequent [Orphanet] 40 / 7739
99
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
100
 (HPO:0000369) Low-set ears 372 / 7739
101
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
102
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
103
 (HPO:0000076) Vesicoureteral reflux Very frequent [Orphanet] 94 / 7739
104
 (HPO:0100581) Megacalicosis Occasional [Orphanet] 1 / 7739
105
 (HPO:0000126) Hydronephrosis 119 / 7739
106
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
107
 (HPO:0000071) Ureteral stenosis 9 / 7739
108
 (HPO:0008897) Postnatal growth retardation 113 / 7739
109
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
110
 (HPO:0002898) Embryonal neoplasm 6 / 7739
111
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
112
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
113
 (HPO:0002059) Cerebral atrophy 171 / 7739
114
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
115
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
116
 (HPO:0012815) Hypoplastic female external genitalia Very frequent [Orphanet] 36 / 7739
117
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
118
 (OMIM) Deep interlabial sulcus 1 / 7739
119
 (OMIM) Fifth toe overlapping fourth 1 / 7739
120
 (OMIM) High, protruding forehead 1 / 7739
121
 (OMIM) Hymenal atresia 1 / 7739
122
 (OMIM) Hypoplastic dermal ridges 2 / 7739
123
 (OMIM) Mesomelic brachymelia 1 / 7739
124
 (OMIM) Metopic suture extends to nasal root 1 / 7739
125
 (OMIM) Sclerotic skull base 3 / 7739
126
 (OMIM) Short perineum 1 / 7739
127
 (OMIM) Steep short base of skull 1 / 7739
128
 (OMIM) Wide occipital synchondrosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably ...
Diagnosis OMIM Lehman et al. (2008) reviewed previously reported cases and proposed diagnostic criteria for the syndrome consisting of a mandatory facial phenotype involving prominent forehead, midface retraction, and short, upturned nose; developmental delay (excepting neonates); and either hydronephrosis or ...
Clinical Description OMIM Schinzel and Giedion (1978) described a unique syndrome in brother and sister, who lived 24 hours and 16 months, respectively. Severe midface retraction, multiple skull anomalies (short and sclerotic base, multiple wormian bones, wide cranial sutures and fontanels), ...
Molecular genetics OMIM In 4 unrelated individuals with Schinzel-Giedion syndrome, Hoischen et al. (2010) sequenced the candidate gene SETBP1 and identified de novo heterozygous mutations in all 4 individuals; using Sanger sequencing, they identified de novo heterozygous SETBP1 mutations in 8 ...