Sotos syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Cerebral gigantism
Number of Symptoms 73
OrphanetNr: 821
OMIM Id: 117550
614753
ICD-10: Q87.3
UMLs: C0175695
MeSH: D058495
MedDRA: 10064387
Snomed: 75968004

Prevalence, inheritance and age of onset:

Prevalence: 0.3 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Unknown
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral disease with cataract
 -Rare eye disease
 -Rare genetic 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
Overgrowth syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome 5
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Polymalformative genetic syndrome with increased risk of developing cancer
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002667) Nephroblastoma 30 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
4
 (HPO:0009792) Teratoma Occasional [Orphanet] 7 / 7739
5
 (HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
6
 (HPO:0000069) Abnormality of the ureter Occasional [Orphanet] 47 / 7739
7
 (HPO:0000457) Depressed nasal ridge Very frequent [Orphanet] 85 / 7739
8
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
9
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
10
 (HPO:0006288) Advanced eruption of teeth 5 / 7739
11
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
12
 (HPO:0000218) High palate 356 / 7739
13
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
14
 (HPO:0000303) Mandibular prognathia Very frequent [Orphanet] 179 / 7739
15
 (HPO:0000189) Narrow palate 45 / 7739
16
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
17
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] 132 / 7739
18
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
19
 (HPO:0009890) High anterior hairline 10 / 7739
20
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
21
 (HPO:0000280) Coarse facial features Occasional [Orphanet] 189 / 7739
22
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
23
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
24
 (HPO:0000307) Pointed chin 45 / 7739
25
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
26
 (HPO:0000639) Nystagmus 555 / 7739
27
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
28
 (HPO:0000540) Hypermetropia 99 / 7739
29
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
30
 (HPO:0000388) Otitis media 28 / 7739
31
 (HPO:0001249) Intellectual disability 1089 / 7739
32
 (HPO:0001263) Global developmental delay 853 / 7739
33
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
34
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
35
 (HPO:0002474) Expressive language delay 8 / 7739
36
 (HPO:0100006) Neoplasm of the central nervous system Occasional [Orphanet] 34 / 7739
37
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
38
 (HPO:0002370) Poor coordination 15 / 7739
39
 (HPO:0002353) EEG abnormality Occasional [Orphanet] 188 / 7739
40
 (HPO:0000826) Precocious puberty Frequent [Orphanet] 42 / 7739
41
 (HPO:0001763) Pes planus 176 / 7739
42
 (HPO:0002970) Genu varum Occasional [Orphanet] 60 / 7739
43
 (HPO:0001833) Long foot 33 / 7739
44
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
45
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
46
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
47
 (HPO:0005616) Accelerated skeletal maturation Very frequent [Orphanet] 46 / 7739
48
 (HPO:0001176) Large hands 43 / 7739
49
 (HPO:0001388) Joint laxity 117 / 7739
50
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
51
 (HPO:0000098) Tall stature Very frequent [Orphanet] 74 / 7739
52
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
53
 (HPO:0001792) Small nail 55 / 7739
54
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
55
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
56
 (HPO:0001629) Ventricular septal defect 316 / 7739
57
 (HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
58
 (HPO:0001631) Atria septal defect 274 / 7739
59
 (HPO:0001952) Abnormal glucose tolerance 9 / 7739
60
 (HPO:0001943) Hypoglycemia Frequent [Orphanet] 131 / 7739
61
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
62
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
63
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
64
 (HPO:0001319) Neonatal hypotonia 101 / 7739
65
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
66
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
67
 (HPO:0002389) Cavum septum pellucidum 13 / 7739
68
 (HPO:0003745) Sporadic 131 / 7739
69
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
70
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
71
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
72
 (HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
73
 (HPO:0002280) Enlarged cisterna magna 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: