Williams syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: WILLIAMS SYNDROME
WS
WMS
WBS
Monosomy 7q11.23
CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB
Williams-Beuren syndrome
Deletion 7q11.23
Number of Symptoms 284
OrphanetNr: 904
OMIM Id: 194050
ICD-10: Q87.8
UMLs: C0175702
MeSH: D018980
MedDRA: 10049644
Snomed: 63247009

Prevalence, inheritance and age of onset:

Prevalence: 1.8 of 100 000 [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic hypertension
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare renal disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Motor stereotypies
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Partial deletion of the long arm of chromosome 7
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Rare neurologic disease with psychiatric involvement
 -Rare neurologic disease
Rare syndrome with cardiac malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic epicanthus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
2
(HPO:0002019) Constipation Frequent [Orphanet] common [HPO] 20089974 IBIS 194 / 7739
3
(HPO:0012450) Chronic constipation 10 / 7739
4
(HPO:0011968) Feeding difficulties 240 / 7739
5
(HPO:0008872) Feeding difficulties in infancy typical [HPO] 153 / 7739
6
(HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
7
(HPO:0010769) Pilonidal sinus Frequent [Orphanet] 35 / 7739
8
(HPO:0000601) Hypotelorism occasional [HPO] 83 / 7739
9
(HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
10
(HPO:0000485) Megalocornea Occasional [Orphanet] 26 / 7739
11
(HPO:0007720) Flat cornea Occasional [Orphanet] 6 / 7739
12
(HPO:0000627) Posterior embryotoxon Occasional [Orphanet] 15 / 7739
13
(HPO:0000635) Blue irides typical [HPO] 25 / 7739
14
(HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
15
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
16
(HPO:0008046) Abnormality of the retinal vasculature Occasional [Orphanet] 41 / 7739
17
(HPO:0001136) Retinal arteriolar tortuosity occasional [HPO] 5 / 7739
18
(HPO:0000486) Strabismus Frequent [Orphanet] common [HPO] 20089974 IBIS 576 / 7739
19
(HPO:0000539) Abnormality of refraction occasional [HPO] 6 / 7739
20
(HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
21
(HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
22
(HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
23
(HPO:0000646) Amblyopia occasional [HPO] 42 / 7739
24
(HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
25
(HPO:0000632) Lacrimation abnormality Occasional [Orphanet] 42 / 7739
26
(HPO:0002205) Recurrent respiratory infections Occasional [Orphanet] 254 / 7739
27
(HPO:0001605) Vocal cord paralysis occasional [HPO] 13 / 7739
28
(HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
29
(HPO:0001609) Hoarse voice typical [HPO] 34 / 7739
30
(HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
31
(HPO:0004322) Short stature Very frequent [Orphanet] common [HPO] 20089974 IBIS 1232 / 7739
32
(HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
33
(HPO:0001531) Failure to thrive in infancy 70% [HPO] 26 / 7739
34
(HPO:0001513) Obesity Frequent [Orphanet] typical [HPO] 172 / 7739
35
(HPO:0003072) Hypercalcemia Very frequent [Orphanet] 15% [HPO] 36 / 7739
36
(HPO:0002150) Hypercalciuria Frequent [Orphanet] 30% [HPO] 45 / 7739
37
(HPO:0000833) Glucose intolerance 20 / 7739
38
(HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
39
(HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
40
(HPO:0001631) Atria septal defect Occasional [Orphanet] occasional [HPO] 20089974 IBIS 274 / 7739
41
(HPO:0001629) Ventricular septal defect Occasional [Orphanet] occasional [HPO] 20089974 IBIS 316 / 7739
42
(HPO:0001633) Abnormality of the mitral valve Frequent [Orphanet] 69 / 7739
43
(HPO:0001653) Mitral regurgitation common [HPO] 20089974 IBIS 64 / 7739
44
(HPO:0001634) Mitral valve prolapse common [HPO] 20089974 IBIS 69 / 7739
45
(HPO:0004764) Myxomatous mitral valve degeneration 20% [HPO] 20089974 IBIS 2 / 7739
46
(HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
47
(HPO:0001650) Aortic valve stenosis 49 / 7739
48
(HPO:0001647) Bicuspid aortic valve 34 / 7739
49
(HPO:0004381) Supravalvular aortic stenosis 75% [HPO] 6 / 7739
50
(HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
51
(HPO:0004760) Congenital septal defect Occasional [Orphanet] 69 / 7739
52
(HPO:0002623) Overriding aorta Occasional [Orphanet] 8 / 7739
53
(HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 228 / 7739
54
(HPO:0004969) Peripheral pulmonary artery stenosis common [HPO] 20089974 IBIS 9 / 7739
55
(HPO:0001642) Pulmonic stenosis common [HPO] 89 / 7739
56
(HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
57
(HPO:0100545) Arterial stenosis Frequent [Orphanet] 22 / 7739
58
(HPO:0002140) Ischemic stroke Frequent [Orphanet] 70 / 7739
59
(HPO:0001677) Coronary artery disease Occasional [Orphanet] 58 / 7739
60
(HPO:0005145) Coronary artery stenosis common [HPO] 20089974 IBIS 5 / 7739
61
(HPO:0001920) Renal artery stenosis rare [HPO] 20089974 IBIS 5 / 7739
62
(HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
63
(HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
64
(HPO:0000822) Hypertension Frequent [Orphanet] 224 / 7739
65
(HPO:0001409) Portal hypertension occasional [HPO] 39 / 7739
66
(HPO:0100817) Renovascular hypertension Frequent [Orphanet] 9 / 7739
67
(HPO:0001699) Sudden death very rare [HPO] 34 / 7739
68
(HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
69
(HPO:0002608) Celiac disease occasional [HPO] 20089974 IBIS 5 / 7739
70
(HPO:0000403) Recurrent otitis media common [HPO] 20089974 IBIS 61 / 7739
71
(HPO:0000010) Recurrent urinary tract infections Occasional [Orphanet] common [HPO] 20089974 IBIS 56 / 7739
72
(HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
73
(HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
74
(HPO:0003198) Myopathy Occasional [Orphanet] 151 / 7739
75
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] common [HPO] 20089974 IBIS 990 / 7739
76
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
77
(HPO:0010547) Muscle flaccidity 466 / 7739
78
(HPO:0004305) Involuntary movements Very frequent [Orphanet] 50 / 7739
79
(HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
80
(HPO:0001324) Muscle weakness 859 / 7739
81
(HPO:0012639) Abnormality of nervous system morphology Very frequent [Orphanet] 25 / 7739
82
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
83
(HPO:0002141) Gait imbalance frequent [HPO] 20089974 IBIS 55 / 7739
84
(HPO:0002311) Incoordination frequent [HPO] 84 / 7739
85
(HPO:0002370) Poor coordination 15 / 7739
86
(HPO:0002071) Abnormality of extrapyramidal motor function Very frequent [Orphanet] 76 / 7739
87
(HPO:0002267) Exaggerated startle response 42 / 7739
88
(HPO:0001347) Hyperreflexia Very frequent [Orphanet] common [HPO] 20089974 IBIS 363 / 7739
89
(HPO:0007034) Generalized hyperreflexia 33 / 7739
90
(HPO:0001276) Hypertonia Frequent [Orphanet] 317 / 7739
91
(HPO:0000708) Behavioral abnormality Very frequent [Orphanet] 212 / 7739
92
(HPO:0100851) Abnormal emotion/affect behavior Very frequent [Orphanet] 85 / 7739
93
(HPO:0000739) Anxiety 80% [HPO] 20089974 IBIS 67 / 7739
94
(MedDRA:10034912) Phobia 1 / 7739
95
(HPO:0000717) Autism Frequent [Orphanet] 108 / 7739
96
(HPO:0007018) Attention deficit hyperactivity disorder frequent [HPO] 20089974 IBIS 56 / 7739
97
(HPO:0010794) Impaired visuospatial constructive cognition typical [HPO] 20089974 IBIS 3 / 7739
98
(HPO:0001249) Intellectual disability common [HPO] 20089974 IBIS 1089 / 7739
99
(HPO:0000722) Obsessive-compulsive behavior Frequent [Orphanet] 35 / 7739
100
(HPO:0008770) Obsessive-compulsive trait 6 / 7739
101
(HPO:0002183) Phonophobia typical [HPO] 20089974 IBIS 10 / 7739
102
(HPO:0002360) Sleep disturbance occasional [HPO] 20089974 IBIS 113 / 7739
103
(HPO:0100785) Insomnia Frequent [Orphanet] 18 / 7739
104
(HPO:0100543) Cognitive impairment Occasional [Orphanet] 230 / 7739
105
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
106
(HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
107
(HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
108
(HPO:0000752) Hyperactivity Very frequent [Orphanet] 140 / 7739
109
(HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
110
(HPO:0001511) Intrauterine growth retardation 358 / 7739
111
(HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
112
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] occasional [HPO] 288 / 7739
113
(HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
114
(HPO:0001822) Hallux valgus Frequent [Orphanet] typical [HPO] 70 / 7739
115
(HPO:0003028) Abnormality of the ankles Occasional [Orphanet] 14 / 7739
116
(HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
117
(HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
118
(HPO:0002999) Patellar dislocation Occasional [Orphanet] 46 / 7739
119
(HPO:0002974) Radioulnar synostosis Occasional [Orphanet] occasional [HPO] 52 / 7739
120
(HPO:0007477) Abnormal dermatoglyphics Occasional [Orphanet] 72 / 7739
121
(HPO:0200021) Down-sloping shoulders typical [HPO] 18 / 7739
122
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
123
(HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
124
(HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
125
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
126
(HPO:0000341) Narrow forehead typical [HPO] 96 / 7739
127
(HPO:0000767) Pectus excavatum Occasional [Orphanet] occasional [HPO] 244 / 7739
128
(HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
129
(HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
130
(HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
131
(HPO:0003307) Hyperlordosis Frequent [Orphanet] 122 / 7739
132
(HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
133
(HPO:0002751) Kyphoscoliosis frequent [HPO] 20089974 IBIS 131 / 7739
134
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
135
(HPO:0003298) Spina bifida occulta Occasional [Orphanet] 67 / 7739
136
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
137
(HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
138
(HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
139
(HPO:0000938) Osteopenia common [HPO] 20089974 IBIS 138 / 7739
140
(HPO:0000939) Osteoporosis common [HPO] 20089974 IBIS 129 / 7739
141
(HPO:0002763) Abnormal cartilage morphology Occasional [Orphanet] 15 / 7739
142
(HPO:0005059) Arthralgia/arthritis Frequent [Orphanet] 141 / 7739
143
(HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
144
(HPO:0001388) Joint laxity common [HPO] 20089974 IBIS 117 / 7739
145
(HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
146
(HPO:0100240) Synostosis of joints Occasional [Orphanet] 11 / 7739
147
(HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
148
(HPO:0010747) Medial flaring of the eyebrow typical [HPO] 4 / 7739
149
(HPO:0002216) Premature graying of hair common [HPO] 20089974 IBIS 43 / 7739
150
(HPO:0001231) Abnormality of the fingernails Frequent [Orphanet] 116 / 7739
151
(HPO:0001792) Small nail typical [HPO] 55 / 7739
152
(HPO:0001800) Hypoplastic toenails Frequent [Orphanet] 74 / 7739
153
(HPO:0004378) Abnormality of the anus Occasional [Orphanet] 34 / 7739
154
(HPO:0002020) Gastroesophageal reflux common [HPO] 20089974 IBIS 101 / 7739
155
(HPO:0002035) Rectal prolapse common [HPO] 20089974 IBIS 11 / 7739
156
(HPO:0002253) Colonic diverticula 30% [HPO] 20089974 IBIS 12 / 7739
157
(HPO:0002256) Small bowel diverticula Frequent [Orphanet] 6 / 7739
158
(HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
159
(HPO:0002024) Malabsorption Occasional [Orphanet] 142 / 7739
160
(HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
161
(HPO:0012437) Abnormal gallbladder morphology Occasional [Orphanet] 17 / 7739
162
(HPO:0001537) Umbilical hernia Occasional [Orphanet] occasional [HPO] 206 / 7739
163
(HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
164
(HPO:0000023) Inguinal hernia occasional [HPO] 181 / 7739
165
(HPO:0001626) Abnormality of the cardiovascular system Very frequent [Orphanet] 73 / 7739
166
(HPO:0100000) Early onset of sexual maturation 50% [HPO] 9 / 7739
167
(HPO:0000826) Precocious puberty Occasional [Orphanet] 42 / 7739
168
(HPO:0000054) Micropenis Occasional [Orphanet] occasional [HPO] 257 / 7739
169
(HPO:0000795) Abnormality of the urethra Occasional [Orphanet] 38 / 7739
170
(HPO:0008661) Urethral stenosis typical [HPO] 9 / 7739
171
(HPO:0000137) Abnormality of the ovary Occasional [Orphanet] 41 / 7739
172
(HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
173
(HPO:0008669) Abnormal spermatogenesis Occasional [Orphanet] 11 / 7739
174
(HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
175
(HPO:0000689) Dental malocclusion Very frequent [Orphanet] frequent [HPO] 20089974 IBIS 114 / 7739
176
(HPO:0004428) Elfin facies Very frequent [Orphanet] 5 / 7739
177
(HPO:0000293) Full cheeks typical [HPO] 85 / 7739
178
(HPO:0000272) Malar flattening Frequent [Orphanet] occasional [HPO] 277 / 7739
179
(HPO:0000275) Narrow face Very frequent [Orphanet] 76 / 7739
180
(HPO:0000307) Pointed chin Very frequent [Orphanet] 45 / 7739
181
(HPO:0000179) Thick lower lip vermilion typical [HPO] 72 / 7739
182
(HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
183
(HPO:0000168) Abnormality of the gingiva Occasional [Orphanet] 51 / 7739
184
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
185
(HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
186
(HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
187
(HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
188
(HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
189
(HPO:0000668) Hypodontia common [HPO] 20089974 IBIS 81 / 7739
190
(HPO:0000691) Microdontia Frequent [Orphanet] frequent [HPO] 20089974 IBIS 104 / 7739
191
(HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
192
(HPO:0000343) Long philtrum Very frequent [Orphanet] typical [HPO] 262 / 7739
193
(HPO:0000194) Open mouth typical [HPO] 70 / 7739
194
(HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
195
(HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
196
(HPO:0000463) Anteverted nares 305 / 7739
197
(HPO:0000455) Broad nasal tip typical [HPO] 67 / 7739
198
(HPO:0005280) Depressed nasal bridge typical [HPO] 381 / 7739
199
(HPO:0003196) Short nose typical [HPO] 264 / 7739
200
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
201
(HPO:0000581) Blepharophimosis Very frequent [Orphanet] typical [HPO] 197 / 7739
202
(HPO:0000286) Epicanthus Very frequent [Orphanet] typical [HPO] 371 / 7739
203
(HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
204
(HPO:0000629) Periorbital fullness typical [HPO] 13 / 7739
205
(HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] frequent [HPO] 20089974 IBIS 524 / 7739
206
(HPO:0000389) Chronic otitis media Frequent [Orphanet] 64 / 7739
207
(HPO:0000464) Abnormality of the neck Very frequent [Orphanet] 31 / 7739
208
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
209
(HPO:0009748) Large earlobe typical [HPO] 27 / 7739
210
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
211
(HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
212
(HPO:0000973) Cutis laxa typical [HPO] 43 / 7739
213
(HPO:0000977) Soft skin typical [HPO] 23 / 7739
214
(HPO:0007495) Prematurely aged appearance Occasional [Orphanet] 44 / 7739
215
(HPO:0001582) Redundant skin Frequent [Orphanet] 51 / 7739
216
(HPO:0000821) Hypothyroidism Occasional [Orphanet] 10% [HPO] 141 / 7739
217
(HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
218
(HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
219
(HPO:0000015) Bladder diverticulum Occasional [Orphanet] frequent [HPO] 20089974 IBIS 15 / 7739
220
(HPO:0000805) Enuresis 11 / 7739
221
(HPO:0002839) Urinary bladder sphincter dysfunction Frequent [Orphanet] 34 / 7739
222
(HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
223
(HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
224
(HPO:0000125) Pelvic kidney 10 / 7739
225
(HPO:0001970) Tubulointerstitial nephritis Occasional [Orphanet] 27 / 7739
226
(HPO:0000121) Nephrocalcinosis Occasional [Orphanet] 10% [HPO] 20089974 IBIS 57 / 7739
227
(HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
228
(HPO:0000113) Polycystic kidney dysplasia Occasional [Orphanet] 75 / 7739
229
(HPO:0000075) Renal duplication Occasional [Orphanet] 5 / 7739
230
(HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
231
(HPO:0000089) Renal hypoplasia 78 / 7739
232
(HPO:0011037) Decreased urine output Frequent [Orphanet] 47 / 7739
233
(HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
234
(HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
235
(HPO:0100659) Abnormality of the cerebral vasculature Frequent [Orphanet] 25 / 7739
236
(HPO:0001297) Stroke very rare [HPO] 20089974 IBIS 44 / 7739
237
(HPO:0004414) Abnormality of the pulmonary artery Frequent [Orphanet] 50 / 7739
238
(HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
239
(HPO:0005344) Abnormality of the carotid arteries Occasional [Orphanet] 6 / 7739
240
(HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 75% [HPO] 20089974 IBIS 131 / 7739
241
(HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
242
(HPO:0001371) Flexion contracture common [HPO] 20089974 IBIS 220 / 7739
243
(HPO:0010780) Hyperacusis Very frequent [Orphanet] common [HPO] 20089974 IBIS 5 / 7739
244
(HPO:0010880) Increased nuchal translucency Occasional [Orphanet] 13 / 7739
245
(HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
246
(HPO:0030089) Abnormal muscle fiber protein expression Frequent [Orphanet] 64 / 7739
247
(HPO:0010662) Abnormality of the diencephalon Occasional [Orphanet] 6 / 7739
248
(HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
249
(HPO:0007099) Arnold-Chiari type I malformation 10% [HPO] 20089974 IBIS 18 / 7739
250
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
251
(HPO:0001321) Cerebellar hypoplasia 15% [HPO] 20089974 IBIS 114 / 7739
252
(HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
253
(HPO:0100613) Death in early adulthood Occasional [Orphanet] 10 / 7739
254
(HPO:0011800) Midface retrusion 221 / 7739
255
(HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
256
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
257
(MedDRA:10000188) Abnormal weight gain 2 / 7739
258
(OMIM) Abnormal brain auditory evoked responses (BAER) 1 / 7739
259
(OMIM) Altered visual acuity 1 / 7739
260
(OMIM) Cocktail party personality 1 / 7739
261
(OMIM) Decreased or absent ipsilateral acoustic reflex response to maximum stimulation 1 / 7739
262
(OMIM) Delayed toilet training 1 / 7739
263
(OMIM) Diverticulosis 2 / 7739
264
(OMIM) Early-onset puberty (in 2 of 3 patients) 2 / 7739
265
(OMIM) Friendly personality 1 / 7739
266
(OMIM) Gregarious 1 / 7739
267
(OMIM) Harsh, brassy, or hoarse voice 1 / 7739
268
(OMIM) Hearing loss, sensorineural, mild to moderate 3 / 7739
269
(OMIM) Hemizygous deletion at 7q11.23 1 / 7739
270
(OMIM) Hypersensitivity to sound 1 / 7739
271
(OMIM) Joing laxity 1 / 7739
272
(OMIM) Joint limitation 3 / 7739
273
(OMIM) Medial eyebrow flare 2 / 7739
274
(OMIM) Poor balance 2 / 7739
275
(OMIM) Poor visual-motor integration (Range 41-80) 1 / 7739
276
(OMIM) Poor visual-spatial construction 1 / 7739
277
(OMIM) Premature aging, mild 1 / 7739
278
(OMIM) Relative sparing of language 1 / 7739
279
(OMIM) Solitary kidney 2 / 7739
280
(OMIM) Stellate pattern of iris 1 / 7739
281
(OMIM) Strong attraction to music 1 / 7739
282
(OMIM) Textured-food intolerance 1 / 7739
283
(OMIM) Type I Chiari malformation 1 / 7739
284
(OMIM) Voiding frequency/urgency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and ...
Diagnosis OMIM Del Rio et al. (1998) reported a gene-dosage octaplex PCR assay using DNA from buccal smears for the rapid detection of elastin gene deletions in Williams syndrome patients. A domain within the promoter region of the elastin gene ...
Clinical Description OMIM Williams et al. (1961) described a syndrome characterized by supravalvular aortic stenosis (SVAS), mental retardation, and distinctive facial features. Beuren et al. (1962) described a similar syndrome with the additional features of dental anomalies and peripheral pulmonary artery ...
Genotype-Phenotype Correlations OMIM Wang et al. (1999) analyzed 85 confirmed cases of 7q11.23 deletion and Williams-Beuren syndrome. Deletion of this region is responsible for 90 to 95% of all clinically typical cases. No statistically significant associations were found between clinical features ...
Molecular genetics OMIM Jones (1990) speculated that calcitonin-gene-related peptide (114130) may be implicated in this disorder. Using 5 restriction enzymes in the study of 13 families, each with at least 1 affected member, Hitman et al. (1989) could find no abnormality ...
Population genetics OMIM Grimm and Wesselhoeft (1980) estimated the frequency of Williams syndrome to be 1 in 10,000.

Stromme et al. (2002) estimated that the Williams-Beuren syndrome occurs at a frequency of approximately 1 in 7,500 live births, with ...

Diagnosis GeneReviews Clinical diagnostic criteria are available for Williams syndrome (WS) [Preus 1984, Committee on Genetics 2001, Committee on Genetics 2002]....
Clinical Description GeneReviews Infancy. The infant with WS is often born post-term and is small for the family background. Feeding difficulties leading to failure to thrive are common, including gastroesophageal (G-E) reflux, disordered suck and swallow, textural aversion, and vomiting. Prolonged colic (>4 months) may be related to G-E reflux, chronic constipation, and/or idiopathic hypercalcemia. Other medical problems that often occur in the first year include strabismus, chronic otitis media, rectal prolapse, umbilical and/or inguinal hernia, and cardiovascular disease [Morris et al 1988]. Infants with WS are hypotonic and typically have hyperextensible joints, resulting in delayed attainment of motor milestones. Walking usually occurs by age 24 months. Speech is also delayed but later becomes a relative strength. Fine motor difficulties are present at all ages....
Genotype-Phenotype Correlations GeneReviews The WBSCR deletion comprises 1.55 megabases (Mb) in 95% of individuals with WS and 1.84 Mb in 5% [Bayes et al 2003]....
Differential Diagnosis GeneReviews WS should be distinguished from other syndromes that include developmental delay, short stature, distinctive facies, and congenital heart disease. These include: Noonan syndrome, deletion 22q11 (DiGeorge syndrome), Smith-Magenis syndrome, Kabuki syndrome, and fetal alcohol syndrome (FAS)....
Management GeneReviews To establish the extent of disease in an individual diagnosed with Williams syndrome, and to guide medical management, the following evaluations are recommended [Morris et al 1999, Committee on Genetics 2001, Committee on Genetics 2002]:...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....