Williams syndrome
- Synonyms
- CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB; Williams-Beuren syndrome
- Modes of inheritance
- Autosomal dominant inheritance (HPO, OMIM)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Colleen A Morris
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (126 available)
Cytogenetics Tests
Clinical features
Help- Abnormality of head or neck
- Blepharophimosis
Blepharophimosis
- MedGen UID: 2670
- Concept ID: C0005744
- Finding: Congenital Abnormality
Abnormality of head or neck
- Broad nasal tip
Broad nasal tip
- MedGen UID: 98424
- Concept ID: C0426429
- Finding: Finding
Abnormality of head or neck
- Dental malocclusion
Dental malocclusion
- MedGen UID: 9869
- Concept ID: C0024636
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Medial flaring of the eyebrow
Medial flaring of the eyebrow
- MedGen UID: 336722
- Concept ID: C1844562
- Finding: Finding
Abnormality of head or neck
- Microdontia
Microdontia
- MedGen UID: 66008
- Concept ID: C0240340
- Finding: Congenital Abnormality
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 388629
- Concept ID: C2673410
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Open mouth
Open mouth
- MedGen UID: 116104
- Concept ID: C0240379
- Finding: Finding
Abnormality of head or neck
- Partial congenital absence of teeth
Partial congenital absence of teeth
- MedGen UID: 43794
- Concept ID: C0020608
- Finding: Congenital Abnormality
Abnormality of head or neck
- Retinal arteriolar tortuosity
Retinal arteriolar tortuosity
- MedGen UID: 334424
- Concept ID: C1843517
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Blepharophimosis
- Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
- Abnormality of metabolism/homeostasis
- Abnormal glucose tolerance
Abnormal glucose tolerance
- MedGen UID: 115989
- Concept ID: C0235401
- Finding: Finding
Abnormality of metabolism/homeostasis
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Food intolerance
Food intolerance
- MedGen UID: 57440
- Concept ID: C0149696
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypercalcemia
Hypercalcemia
- MedGen UID: 5686
- Concept ID: C0020437
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypercalciuria
Hypercalciuria
- MedGen UID: 43775
- Concept ID: C0020438
- Finding: Finding
Abnormality of metabolism/homeostasis
- Abnormal glucose tolerance
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Bicuspid aortic valve
Bicuspid aortic valve
- MedGen UID: 57436
- Concept ID: C0149630
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Coronary artery stenosis
Coronary artery stenosis
- MedGen UID: 66859
- Concept ID: C0242231
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Mitral regurgitation
Mitral regurgitation
- MedGen UID: 7670
- Concept ID: C0026266
- Finding: Finding
Abnormality of the cardiovascular system
- Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis
- MedGen UID: 138014
- Concept ID: C0345030
- Finding: Finding
Abnormality of the cardiovascular system
- Portal hypertension
Portal hypertension
- MedGen UID: 9375
- Concept ID: C0020541
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Pulmonic stenosis (disease)
Pulmonic stenosis (disease)
- MedGen UID: 408291
- Concept ID: C1956257
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Renal artery stenosis
Renal artery stenosis
- MedGen UID: 19727
- Concept ID: C0035067
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Retinal arteriolar tortuosity
Retinal arteriolar tortuosity
- MedGen UID: 334424
- Concept ID: C1843517
- Finding: Finding
Abnormality of the cardiovascular system
- Stroke
Stroke
- MedGen UID: 52522
- Concept ID: C0038454
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Supravalvar aortic stenosis
Supravalvar aortic stenosis
- MedGen UID: 2001
- Concept ID: C0003499
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Celiac disease
Celiac disease
- MedGen UID: 3291
- Concept ID: C0007570
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Chronic constipation
Chronic constipation
- MedGen UID: 98325
- Concept ID: C0401149
- Finding: Sign or Symptom
Abnormality of the digestive system
- Colonic diverticula
Colonic diverticula
- MedGen UID: 3878
- Concept ID: C0012819
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Gastroesophageal reflux
Gastroesophageal reflux
- MedGen UID: 1368658
- Concept ID: C4317146
- Finding: Finding
Abnormality of the digestive system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the digestive system
- Portal hypertension
Portal hypertension
- MedGen UID: 9375
- Concept ID: C0020541
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Rectal prolapse
Rectal prolapse
- MedGen UID: 11151
- Concept ID: C0034888
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Celiac disease
- Abnormality of the endocrine system
- Diabetes mellitus
Diabetes mellitus
- MedGen UID: 8350
- Concept ID: C0011849
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Early onset of sexual maturation
Early onset of sexual maturation
- MedGen UID: 868001
- Concept ID: C4022392
- Finding: Finding
Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Diabetes mellitus
- Abnormality of the eye
- Abnormality of refraction
Abnormality of refraction
- MedGen UID: 871349
- Concept ID: C4025843
- Finding: Anatomical Abnormality
Abnormality of the eye
- Amblyopia
Amblyopia
- MedGen UID: 8009
- Concept ID: C0002418
- Finding: Disease or Syndrome
Abnormality of the eye
- Blue irides
Blue irides
- MedGen UID: 108297
- Concept ID: C0578626
- Finding: Finding
Abnormality of the eye
- Hypotelorism
Hypotelorism
- MedGen UID: 96107
- Concept ID: C0424711
- Finding: Finding
Abnormality of the eye
- Retinal arteriolar tortuosity
Retinal arteriolar tortuosity
- MedGen UID: 334424
- Concept ID: C1843517
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormality of refraction
- Abnormality of the genitourinary system
- Diverticulum of bladder
Diverticulum of bladder
- MedGen UID: 57625
- Concept ID: C0156273
- Finding: Finding
Abnormality of the genitourinary system
- Enuresis
Enuresis
- MedGen UID: 8649
- Concept ID: C0014394
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Hypercalciuria
Hypercalciuria
- MedGen UID: 43775
- Concept ID: C0020438
- Finding: Finding
Abnormality of the genitourinary system
- Micropenis
Micropenis
- MedGen UID: 1633603
- Concept ID: C4551492
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Nephrocalcinosis
Nephrocalcinosis
- MedGen UID: 10222
- Concept ID: C0027709
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Pelvic kidney
Pelvic kidney
- MedGen UID: 67446
- Concept ID: C0221209
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Recurrent urinary tract infections
Recurrent urinary tract infections
- MedGen UID: 120466
- Concept ID: C0262655
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal artery stenosis
Renal artery stenosis
- MedGen UID: 19727
- Concept ID: C0035067
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal hypoplasia (disease)
Renal hypoplasia (disease)
- MedGen UID: 120571
- Concept ID: C0266295
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Urethral stenosis
Urethral stenosis
- MedGen UID: 12016
- Concept ID: C0041974
- Finding: Finding
Abnormality of the genitourinary system
- Vesicoureteral reflux
Vesicoureteral reflux
- MedGen UID: 21852
- Concept ID: C0042580
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Diverticulum of bladder
- Abnormality of the immune system
- Celiac disease
Celiac disease
- MedGen UID: 3291
- Concept ID: C0007570
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent urinary tract infections
Recurrent urinary tract infections
- MedGen UID: 120466
- Concept ID: C0262655
- Finding: Disease or Syndrome
Abnormality of the immune system
- Celiac disease
- Abnormality of the integument
- Cutis laxa
Cutis laxa
- MedGen UID: 8206
- Concept ID: C0010495
- Finding: Disease or Syndrome
Abnormality of the integument
- Medial flaring of the eyebrow
Medial flaring of the eyebrow
- MedGen UID: 336722
- Concept ID: C1844562
- Finding: Finding
Abnormality of the integument
- Premature graying of hair
Premature graying of hair
- MedGen UID: 75524
- Concept ID: C0263498
- Finding: Finding
Abnormality of the integument
- Small nail
Small nail
- MedGen UID: 537942
- Concept ID: C0263523
- Finding: Finding
Abnormality of the integument
- Soft skin
Soft skin
- MedGen UID: 336730
- Concept ID: C1844592
- Finding: Finding
Abnormality of the integument
- Cutis laxa
- Abnormality of the musculoskeletal system
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Down-sloping shoulders
Down-sloping shoulders
- MedGen UID: 346461
- Concept ID: C1856872
- Finding: Finding
Abnormality of the musculoskeletal system
- Flexion contracture
Flexion contracture
- MedGen UID: 83069
- Concept ID: C0333068
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hallux valgus
Hallux valgus
- MedGen UID: 5416
- Concept ID: C0018536
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint laxity
Joint laxity
- MedGen UID: 39439
- Concept ID: C0086437
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Muscular hypotonia
Muscular hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 776590
- Concept ID: C2911643
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Clinodactyly of the 5th finger
- Abnormality of the nervous system
- Anxiety
Anxiety
- MedGen UID: 1613
- Concept ID: C0003467
- Finding: Finding
Abnormality of the nervous system
- Arnold-Chiari type I malformation
Arnold-Chiari type I malformation
- MedGen UID: 196689
- Concept ID: C0750929
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Gait imbalance
Gait imbalance
- MedGen UID: 373028
- Concept ID: C1836150
- Finding: Finding
Abnormality of the nervous system
- Hyperacusis
Hyperacusis
- MedGen UID: 20497
- Concept ID: C0034880
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Impaired visuospatial constructive cognition
Impaired visuospatial constructive cognition
- MedGen UID: 869275
- Concept ID: C4023701
- Finding: Finding
Abnormality of the nervous system
- Incoordination
Incoordination
- MedGen UID: 141714
- Concept ID: C0520966
- Finding: Finding
Abnormality of the nervous system
- Obsessive-compulsive trait
Obsessive-compulsive trait
- MedGen UID: 322417
- Concept ID: C1834433
- Finding: Finding
Abnormality of the nervous system
- Phonophobia
Phonophobia
- MedGen UID: 155864
- Concept ID: C0751466
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Poor coordination
Poor coordination
- MedGen UID: 107874
- Concept ID: C0563243
- Finding: Finding
Abnormality of the nervous system
- Sleep disturbance
Sleep disturbance
- MedGen UID: 52372
- Concept ID: C0037317
- Finding: Sign or Symptom
Abnormality of the nervous system
- Stroke
Stroke
- MedGen UID: 52522
- Concept ID: C0038454
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Vocal cord paralysis
Vocal cord paralysis
- MedGen UID: 53047
- Concept ID: C0042928
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Anxiety
- Abnormality of the respiratory system
- Peripheral pulmonary artery stenosis
Peripheral pulmonary artery stenosis
- MedGen UID: 138014
- Concept ID: C0345030
- Finding: Finding
Abnormality of the respiratory system
- Peripheral pulmonary artery stenosis
- Abnormality of the voice
- Hoarse voice
Hoarse voice
- MedGen UID: 5602
- Concept ID: C0019825
- Finding: Sign or Symptom
Abnormality of the voice
- Vocal cord paralysis
Vocal cord paralysis
- MedGen UID: 53047
- Concept ID: C0042928
- Finding: Disease or Syndrome
Abnormality of the voice
- Hoarse voice
- Ear malformation
- Large earlobe
Large earlobe
- MedGen UID: 334979
- Concept ID: C1844573
- Finding: Finding
Ear malformation
- Recurrent otitis media
Recurrent otitis media
- MedGen UID: 155436
- Concept ID: C0747085
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss
Sensorineural hearing loss
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Large earlobe
- Growth abnormality
- Failure to thrive in infancy
Failure to thrive in infancy
- MedGen UID: 358083
- Concept ID: C1867873
- Finding: Finding
Growth abnormality
- Intrauterine growth retardation
Intrauterine growth retardation
- MedGen UID: 473406
- Concept ID: C1386048
- Finding: Pathologic Function
Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive in infancy
- ACC/AHA, 2008ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons.
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