Clinical Signs and Symptoms
ORPHA:904 Williams syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
Clinical signs and symptoms
- Abdominal pain HP:0002027
- Abnormal social behavior HP:0012433
- Abnormality of extrapyramidal motor function HP:0002071
- Abnormality of nervous system morphology HP:0012639
- Abnormality of pelvic girdle bone morphology HP:0002644
- Abnormality of the cardiovascular system HP:0001626
- Abnormality of the neck HP:0000464
- Abnormality of the voice HP:0001608
- Anxiety HP:0000739
- Ataxia HP:0001251
- Blepharophimosis HP:0000581
- Broad forehead HP:0000337
- Coarse facial features HP:0000280
- Depression HP:0000716
- Dysgraphia HP:0010526
- Dysmetria HP:0001310
- Elfin facies HP:0004428
- Epicanthus HP:0000286
- Everted lower lip vermilion HP:0000232
- Failure to thrive in infancy HP:0001531
- Gait disturbance HP:0001288
- Gait imbalance HP:0002141
- High forehead HP:0000348
- High hypermetropia HP:0008499
- Hoarse voice HP:0001609
- Hyperacusis HP:0010780
- Hypercalcemia HP:0003072
- Hyperreflexia HP:0001347
- Intellectual disability HP:0001249
- Involuntary movements HP:0004305
- Long philtrum HP:0000343
- Low-set, posteriorly rotated ears HP:0000368
- Macroglossia HP:0000158
- Macrotia HP:0000400
- Micrognathia HP:0000347
- Narrow face HP:0000275
- Neurological speech impairment HP:0002167
- Open bite HP:0010807
- Overfriendliness HP:0100025
- Periorbital edema HP:0100539
- Phonophobia HP:0002183
- Pointed chin HP:0000307
- Protruding ear HP:0000411
- Short nose HP:0003196
- Short stature HP:0004322
- Thick lower lip vermilion HP:0000179
- Tremor HP:0001337
- Wide mouth HP:0000154
- Wide nasal bridge HP:0000431
Very frequent
- Abnormal fingernail morphology HP:0001231
- Abnormality of dental enamel HP:0000682
- Abnormality of dental morphology HP:0006482
- Abnormality of the bladder HP:0000014
- Abnormality of the cerebral vasculature HP:0100659
- Arterial stenosis HP:0100545
- Arthralgia HP:0002829
- Attention deficit hyperactivity disorder HP:0007018
- Autism HP:0000717
- Cerebral ischemia HP:0002637
- Chronic otitis media HP:0000389
- Clinodactyly of the 5th finger HP:0004209
- Colonic diverticula HP:0002253
- Constipation HP:0002019
- Dental malocclusion HP:0000689
- Down-sloping shoulders HP:0200021
- Elevated circulating creatine kinase concentration HP:0003236
- Genu valgum HP:0002857
- Hallux valgus HP:0001822
- Hypercalciuria HP:0002150
- Hyperlordosis HP:0003307
- Hypertension HP:0000822
- Hypodontia HP:0000668
- Hypoplasia of the zygomatic bone HP:0010669
- Hypoplastic toenails HP:0001800
- Hypotonia HP:0001252
- Inguinal hernia HP:0000023
- Insomnia HP:0100785
- Joint stiffness HP:0001387
- Kyphosis HP:0002808
- Microcephaly HP:0000252
- Microdontia HP:0000691
- Mitral regurgitation HP:0001653
- Mitral valve prolapse HP:0001634
- Nausea and vomiting HP:0002017
- Nystagmus-induced head nodding HP:0001361
- Obesity HP:0001513
- Obsessive-compulsive behavior HP:0000722
- Pelvic kidney HP:0000125
- Peripheral pulmonary artery stenosis HP:0004969
- Pes planus HP:0001763
- Polyuria HP:0000103
- Proteinuria HP:0000093
- Pulmonic stenosis HP:0001642
- Redundant skin HP:0001582
- Renal insufficiency HP:0000083
- Renovascular hypertension HP:0100817
- Sacral dimple HP:0000960
- Sensorineural hearing impairment HP:0000407
- Spasticity HP:0001257
- Strabismus HP:0000486
- Stroke HP:0001297
- Supravalvular aortic stenosis HP:0004381
- Visual impairment HP:0000505
Frequent
- Abnormal cardiac septum morphology HP:0001671
- Abnormal circulating lipid concentration HP:0003119
- Abnormal dermatoglyphics HP:0007477
- Abnormal form of the vertebral bodies HP:0003312
- Abnormality of the ankles HP:0003028
- Abnormality of the carotid arteries HP:0005344
- Abnormality of the diencephalon HP:0010662
- Abnormality of the endocardium HP:0004306
- Abnormality of the gastric mucosa HP:0004295
- Adducted thumb HP:0001181
- Aplasia/Hypoplasia of the iris HP:0008053
- Arnold-Chiari malformation HP:0002308
- Atrial septal defect HP:0001631
- Atrophy/Degeneration involving the corticospinal tracts HP:0007372
- Bicuspid aortic valve HP:0001647
- Bladder diverticulum HP:0000015
- Blue irides HP:0000635
- Cardiomegaly HP:0001640
- Carious teeth HP:0000670
- Cataract HP:0000518
- Cerebral cortical atrophy HP:0002120
- Cholelithiasis HP:0001081
- Congestive heart failure HP:0001635
- Corneal opacity HP:0007957
- Cryptorchidism HP:0000028
- Death in early adulthood HP:0100613
- Delayed skeletal maturation HP:0002750
- Developmental regression HP:0002376
- Dilatation of the aortic arch HP:0005113
- Dysarthria HP:0001260
- Dysphonia HP:0001618
- Flat cornea HP:0007720
- Functional abnormality of male internal genitalia HP:0000025
- Gastroesophageal reflux HP:0002020
- Gingival overgrowth HP:0000212
- Glaucoma HP:0000501
- Hypertrophic cardiomyopathy HP:0001639
- Hypogonadotropic hypogonadism HP:0000044
- Hypoplasia of penis HP:0008736
- Hypothyroidism HP:0000821
- Increased bone mineral density HP:0011001
- Increased nuchal translucency HP:0010880
- Joint hyperflexibility HP:0005692
- Joint laxity HP:0001388
- Lacrimation abnormality HP:0000632
- Malabsorption HP:0002024
- Megalocornea HP:0000485
- Multiple renal cysts HP:0005562
- Myocardial infarction HP:0001658
- Myopathy HP:0003198
- Myopia HP:0000545
- Nephrocalcinosis HP:0000121
- Nephrolithiasis HP:0000787
- Nevus flammeus HP:0001052
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Overriding aorta HP:0002623
- Patellar dislocation HP:0002999
- Patent ductus arteriosus HP:0001643
- Pectus excavatum HP:0000767
- Peptic ulcer HP:0004398
- Polycystic ovaries HP:0000147
- Posterior embryotoxon HP:0000627
- Precocious puberty HP:0000826
- Prematurely aged appearance HP:0007495
- Radioulnar synostosis HP:0002974
- Rectal prolapse HP:0002035
- Recurrent respiratory infections HP:0002205
- Recurrent urinary tract infections HP:0000010
- Renal duplication HP:0000075
- Renal hypoplasia HP:0000089
- Retinal arteriolar tortuosity HP:0001136
- Scoliosis HP:0002650
- Spina bifida occulta HP:0003298
- Sudden cardiac death HP:0001645
- Synostosis of joints HP:0100240
- Tetralogy of Fallot HP:0001636
- Tracheoesophageal fistula HP:0002575
- Tubulointerstitial abnormality HP:0001969
- Type II diabetes mellitus HP:0005978
- Umbilical hernia HP:0001537
- Urethral stenosis HP:0008661
- Ventricular septal defect HP:0001629
- Vertebral segmentation defect HP:0003422
- Vesicoureteral reflux HP:0000076
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.