Williams syndrome
A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
Also known as: Williams syndrome, Williams-Beuren syndrome, Williams-Beuren syndrome (WBS), deletion 7q11.23, monosomy 7q11.23, WBS, WMS.
Category: General
Symptoms associated with Williams syndrome
The following symptoms have been associated with Williams syndrome in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Constipation
Infrequent or difficult evacuation of feces....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hoarse voice
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy...
Hypertension
The presence of chronic increased pressure in the systemic arterial system....
Periorbital fullness
Increase in periorbital soft tissue....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate Williams syndrome
Healthcare providers may order these tests when evaluating Williams syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Williams syndrome, which is why a clinical evaluation is important.
Coffin-Siris syndrome 6
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene....
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
Williams syndrome
Williams syndrome is a medical condition that may be associated with various symptoms and signs....
intellectual developmental disorder, X-linked, syndromic 37
intellectual developmental disorder, X-linked, syndromic 37 is a medical condition that may be associated with...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Williams syndrome?
Williams syndrome is a health condition described in medical literature. A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)
What are the symptoms of Williams syndrome?
Williams syndrome is associated with 8 symptoms in the medical literature we index, including Anxiety, Chronic constipation, Constipation, Gastroesophageal reflux, Hoarse voice, Hypertension. Symptoms vary widely between individuals.
How is Williams syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Williams syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Williams syndrome, please discuss your symptoms with a qualified healthcare provider.