Coffin-Siris syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 105
OrphanetNr: 1465
OMIM Id: 135900
614562
614607
614608
614609
ICD-10: Q87.1
UMLs: C0265338
MeSH: C536436
MedDRA:
Snomed: 10007009

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with brachydactyly
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000151) Aplasia of the uterus 12 / 7739
3
 (HPO:0000086) Ectopic kidney 29 / 7739
4
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
5
 (HPO:0000089) Renal hypoplasia 78 / 7739
6
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
7
 (HPO:0000126) Hydronephrosis 119 / 7739
8
 (HPO:0000047) Hypospadias 250 / 7739
9
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
10
 (HPO:0000028) Cryptorchidism 347 / 7739
11
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
12
 (HPO:0000218) High palate 356 / 7739
13
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
14
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
15
 (HPO:0000601) Hypotelorism 83 / 7739
16
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
17
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
18
 (HPO:0000322) Short philtrum Occasional [Orphanet] 130 / 7739
19
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
20
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
21
 (HPO:0000457) Depressed nasal ridge Frequent [Orphanet] 85 / 7739
22
 (HPO:0000175) Cleft palate 349 / 7739
23
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
24
 (HPO:0000527) Long eyelashes 46 / 7739
25
 (HPO:0002209) Sparse scalp hair 59 / 7739
26
 (HPO:0000574) Thick eyebrow Very frequent [Orphanet] 96 / 7739
27
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
28
 (HPO:0000455) Broad nasal tip 67 / 7739
29
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
30
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
31
 (HPO:0000499) Abnormality of the eyelashes Very frequent [Orphanet] 35 / 7739
32
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
33
 (HPO:0000453) Choanal atresia 76 / 7739
34
 (HPO:0000483) Astigmatism 67 / 7739
35
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
36
 (HPO:0000545) Myopia 286 / 7739
37
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
38
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
39
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
40
 (HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
41
 (HPO:0000384) Preauricular skin tag 62 / 7739
42
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
43
 (HPO:0001249) Intellectual disability 1089 / 7739
44
 (HPO:0000718) Aggressive behavior 109 / 7739
45
 (HPO:0006863) Severe expressive language delay 2 / 7739
46
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
47
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
48
 (HPO:0000729) Autistic behavior 27 / 7739
49
 (HPO:0006498) Aplasia/Hypoplasia of the patella 10 / 7739
50
 (HPO:0003045) Abnormality of the patella Frequent [Orphanet] 33 / 7739
51
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
52
 (HPO:0003468) Abnormality of the vertebrae Occasional [Orphanet] 77 / 7739
53
 (HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
54
 (HPO:0003083) Dislocated radial head 35 / 7739
55
 (HPO:0001388) Joint laxity 117 / 7739
56
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
57
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
58
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
59
 (HPO:0002673) Coxa valga 57 / 7739
60
 (HPO:0005108) Abnormality of the intervertebral disk Occasional [Orphanet] 12 / 7739
61
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
62
 (HPO:0000960) Sacral dimple 29 / 7739
63
 (HPO:0004227) Short distal phalanx of the 5th finger 4 / 7739
64
 (HPO:0100391) Short distal phalanx of the 5th toe 1 / 7739
65
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
66
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
67
 (HPO:0003042) Elbow dislocation Frequent [Orphanet] 89 / 7739
68
 (HPO:0000879) Short sternum 16 / 7739
69
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
70
 (HPO:0002566) Intestinal malrotation 89 / 7739
71
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
72
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
73
 (HPO:0000023) Inguinal hernia 181 / 7739
74
 (HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
75
 (HPO:0002588) Duodenal ulcer 15 / 7739
76
 (HPO:0001537) Umbilical hernia 206 / 7739
77
 (HPO:0002592) Gastric ulcer 39 / 7739
78
 (HPO:0002576) Intussusception 10 / 7739
79
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
80
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
81
 (HPO:0008897) Postnatal growth retardation 113 / 7739
82
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
83
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
84
 (HPO:0009747) Lumbosacral hirsutism 2 / 7739
85
 (HPO:0000965) Cutis marmorata Occasional [Orphanet] 46 / 7739
86
 (HPO:0008398) Hypoplastic fifth fingernail 1 / 7739
87
 (HPO:0002217) Slow-growing hair Very frequent [Orphanet] 22 / 7739
88
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
89
 (HPO:0002219) Facial hypertrichosis 8 / 7739
90
 (HPO:0001028) Hemangioma 23 / 7739
91
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
92
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
93
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
94
 (HPO:0001629) Ventricular septal defect 316 / 7739
95
 (HPO:0001631) Atria septal defect 274 / 7739
96
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
97
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
98
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
99
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
100
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
101
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
102
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
103
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
104
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
105
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: