Topic: Williams syndrome
Question: What are the symptoms of Williams syndrome ?
Answer: What are the signs and symptoms of Williams syndrome? The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.  People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder. The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.  Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt. Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible. The Human Phenotype Ontology provides the following list of signs and symptoms for Williams syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal pain 90% Abnormal nasal morphology 90% Abnormality of extrapyramidal motor function 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the aortic valve 90% Abnormality of the neck 90% Abnormality of the tongue 90% Abnormality of the voice 90% Attention deficit hyperactivity disorder 90% Blepharophimosis 90% Broad forehead 90% Coarse facial features 90% Cognitive impairment 90% Dental malocclusion 90% Elfin facies 90% Epicanthus 90% Gait disturbance 90% High forehead 90% Hyperacusis 90% Hypercalcemia 90% Hypermetropia 90% Hyperreflexia 90% Incoordination 90% Involuntary movements 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow face 90% Neurological speech impairment 90% Periorbital edema 90% Pointed chin 90% Short stature 90% Thick lower lip vermilion 90% Tremor 90% Wide mouth 90% Anxiety 80% Constipation 75% Coronary artery stenosis 75% Diabetes mellitus 75% Flexion contracture 75% Gastroesophageal reflux 75% Hypodontia 75% Intellectual disability 75% Joint laxity 75% Mitral regurgitation 75% Mitral valve prolapse 75% Muscular hypotonia 75% Osteopenia 75% Osteoporosis 75% Peripheral pulmonary artery stenosis 75% Premature graying of hair 75% Pulmonic stenosis 75% Rectal prolapse 75% Recurrent otitis media 75% Recurrent urinary tract infections 75% Strabismus 75% Supravalvular aortic stenosis 75% Failure to thrive in infancy 70% Abnormal localization of kidney 50% Abnormality of dental enamel 50% Abnormality of the fingernails 50% Abnormality of the mitral valve 50% Abnormality of the pulmonary artery 50% Abnormality of the shoulder 50% Arthralgia 50% Autism 50% Blue irides 50% Bowel diverticulosis 50% Broad nasal tip 50% Cerebral ischemia 50% Clinodactyly of the 5th finger 50% Cutis laxa 50% Depressed nasal bridge 50% Down-sloping shoulders 50% Early onset of sexual maturation 50% Feeding difficulties in infancy 50% Full cheeks 50% Genu valgum 50% Hallux valgus 50% Hoarse voice 50% Hypercalciuria 50% Hyperlordosis 50% Hypertonia 50% Hypoplasia of the zygomatic bone 50% Hypoplastic toenails 50% Impaired visuospatial constructive cognition 50% Insomnia 50% Kyphosis 50% Large earlobe 50% Limitation of joint mobility 50% Medial flaring of the eyebrow 50% Microcephaly 50% Microdontia 50% Narrow forehead 50% Nausea and vomiting 50% Obesity 50% Obsessive-compulsive behavior 50% Open mouth 50% Otitis media 50% Periorbital fullness 50% Pes planus 50% Phonophobia 50% Proteinuria 50% Reduced number of teeth 50% Renal insufficiency 50% Renovascular hypertension 50% Sacral dimple 50% Sensorineural hearing impairment 50% Short nose 50% Small nail 50% Soft skin 50% Urethral stenosis 50% Visual impairment 50% Bladder diverticulum 33% Gait imbalance 33% Kyphoscoliosis 33% Colonic diverticula 30% Myxomatous mitral valve degeneration 20% Cerebellar hypoplasia 15% Arnold-Chiari type I malformation 10% Hypothyroidism 10% Nephrocalcinosis 10% Abnormal dermatoglyphics 7.5% Abnormal form of the vertebral bodies 7.5% Abnormality of lipid metabolism 7.5% Abnormality of refraction 7.5% Abnormality of the ankles 7.5% Abnormality of the carotid arteries 7.5% Abnormality of the diencephalon 7.5% Abnormality of the endocardium 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the retinal vasculature 7.5% Abnormality of the urethra 7.5% Adducted thumb 7.5% Amblyopia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the iris 7.5% Arnold-Chiari malformation 7.5% Atria septal defect 7.5% Biliary tract abnormality 7.5% Cardiomegaly 7.5% Carious teeth 7.5% Cataract 7.5% Celiac disease 7.5% Cerebral cortical atrophy 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cryptorchidism 7.5% Delayed skeletal maturation 7.5% Developmental regression 7.5% Flat cornea 7.5% Functional abnormality of male internal genitalia 7.5% Gingival overgrowth 7.5% Glaucoma 7.5% Hypertrophic cardiomyopathy 7.5% Hypoplasia of penis 7.5% Hypotelorism 7.5% Increased bone mineral density 7.5% Increased nuchal translucency 7.5% Inguinal hernia 7.5% Joint hypermobility 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Malar flattening 7.5% Megalocornea 7.5% Micropenis 7.5% Myopathy 7.5% Myopia 7.5% Nephrolithiasis 7.5% Opacification of the corneal stroma 7.5% Overriding aorta 7.5% Patellar dislocation 7.5% Patent ductus arteriosus 7.5% Pectus excavatum 7.5% Polycystic kidney dysplasia 7.5% Polycystic ovaries 7.5% Portal hypertension 7.5% Posterior embryotoxon 7.5% Precocious puberty 7.5% Prematurely aged appearance 7.5% Radioulnar synostosis 7.5% Recurrent respiratory infections 7.5% Reduced bone mineral density 7.5% Renal duplication 7.5% Renal hypoplasia/aplasia 7.5% Retinal arteriolar tortuosity 7.5% Scoliosis 7.5% Sleep disturbance 7.5% Spina bifida occulta 7.5% Sudden cardiac death 7.5% Tetralogy of Fallot 7.5% Tracheoesophageal fistula 7.5% Type II diabetes mellitus 7.5% Umbilical hernia 7.5% Ventricular septal defect 7.5% Vertebral segmentation defect 7.5% Vesicoureteral reflux 7.5% Vocal cord paralysis 7.5% Renal artery stenosis 5% Stroke 1% Sudden death 1% Autosomal dominant inheritance - Bicuspid aortic valve - Chronic constipation - Enuresis - Flat midface - Glucose intolerance - Intrauterine growth retardation - Obsessive-compulsive trait - Pelvic kidney - Poor coordination - Renal hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)