Total 178 clinical symptoms reported for Williams syndrome
| Abdominal pain |
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Synonyms:Abdominal pain; Pain in stomach; Stomach pain |
Very frequent |
| Abnormal nervous system morphology |
A structural anomaly of the nervous system.
Synonyms:Abnormal nervous system morphology; Abnormal shape of nervous system; Abnormality of nervous system morphology |
Very frequent |
| Abnormal social behavior |
An abnormality of actions or reactions of a person taking place during interactions with others.
Synonyms:Abnormal social behavior; Abnormal social behaviour |
Very frequent |
| Abnormality of extrapyramidal motor function |
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Synonyms:Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs |
Very frequent |
| Abnormality of pelvic girdle bone morphology |
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Synonyms:Abnormal shape of pelvic girdle bone |
Very frequent |
| Abnormality of the cardiovascular system |
Any abnormality of the cardiovascular system.
Synonyms:Abnormality of the cardiovascular system; Cardiovascular abnormality |
Very frequent |
| Abnormality of the neck |
An abnormality of the neck.
Synonyms:Abnormality of the neck; Anomaly of the neck |
Very frequent |
| Abnormality of the voice |
Synonyms:Abnormality of the voice; Voice abnormality |
Very frequent |
| Anxiety |
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Synonyms:Anxiety; Anxiousness; Excessive, persistent worry and fear |
Very frequent |
| Ataxia |
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
| Blepharophimosis |
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Synonyms:Decreased width of palpebral fissure; Narrow opening between the eyelids |
Very frequent |
| Broad forehead |
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Synonyms:Bitemporal widening; Broad forehead; Increased bitemporal dimension; Increased bitemporal width; Increased width of the forehead; Intertemporal widening; Wide forehead |
Very frequent |
| Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
Very frequent |
| Depression |
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Synonyms:Depression; Depressivity |
Very frequent |
| Dysgraphia |
A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.
|
Very frequent |
| Dysmetria |
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Synonyms:Lack of coordination of movement |
Very frequent |
| Elfin facies |
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Synonyms:Elf-like facial appearance; Elf-like facial features |
Very frequent |
| Epicanthus |
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds |
Very frequent |
| Everted lower lip vermilion |
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Synonyms:Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip |
Very frequent |
| Failure to thrive in infancy |
Synonyms:Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy |
Very frequent |
| Gait disturbance |
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Synonyms:Abnormal gait; Abnormal walk; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait |
Very frequent |
| Gait imbalance |
Synonyms:Abnormality of balance; Abnormality of equilibrium; Imbalanced walk |
Very frequent |
| High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
| High hypermetropia |
A severe form of hypermetropia with over +5.00 diopters.
Synonyms:High hyperopia; High-grade hypermetropia; Severe farsightedness; Severe long-sightedness |
Very frequent |
| Hoarse voice |
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Synonyms:Hoarse voice; Hoarseness; Husky voice |
Very frequent |
| Hyperacusis |
Over-sensitivity to certain frequency ranges of sound.
Synonyms:Loudness intolerance; Sensitivity to noise |
Very frequent |
| Hyperreflexia |
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Synonyms:Increased deep tendon reflexes; Increased reflexes |
Very frequent |
| Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Involuntary movements |
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Synonyms:Involuntary movements; Involuntary muscle contractions |
Very frequent |
| Long philtrum |
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum |
Very frequent |
| Low-set, posteriorly rotated ears |
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Synonyms:Low-set posteriorly rotated ears |
Very frequent |
| Macroglossia |
Increased length and width of the tongue.
Synonyms:Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy |
Very frequent |
| Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
| Micrognathia |
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Lower jaw retrusion; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Mandibular retrognathia; Mandibular retrusion; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible |
Very frequent |
| Narrow face |
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Synonyms:Decreased breadth of face; Decreased horizontal dimension of face; Decreased transverse dimension of face; Decreased width of face; Horizontal deficiency of face; Horizontal hypoplasia of face; Horizontal insufficiency of face; Narrow face; Narrow facies; Thin facies; Transverse deficiency of face; Transverse hypoplasia of face; Transverse insufficiency of face |
Very frequent |
| Neurological speech impairment |
Synonyms:Speech disorder; Speech impairment; Speech impediment |
Very frequent |
| Open bite |
Visible space between the dental arches in occlusion.
Synonyms:Absence of overlap of upper and lower teeth; Open bite; Open bite between upper and lower teeth |
Very frequent |
| Overfriendliness |
A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
Synonyms:Overfriendliness |
Very frequent |
| Phonophobia |
An abnormally heightened sensitivity to loud sounds.
Synonyms:Fear of loud sounds |
Very frequent |
| Pointed chin |
A marked tapering of the lower face to the chin.
Synonyms:Pointed chin; Pointed mention region; Pointy chin; Small pointed chin; Witch's chin |
Very frequent |
| Protruding ear |
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Synonyms:Prominent ear; Prominent ears |
Very frequent |
| Short nose |
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose |
Very frequent |
| Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Thick lower lip vermilion |
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Synonyms:Full lower lip vermilion; Increased height of lower lip vermilion; Increased volume of lower lip; Increased volume of lower lip vermilion; Plump lower lip; Prominent lower lip; Thick vermilion border of lower lip |
Very frequent |
| Tremor |
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Synonyms:Tremor; Tremors |
Very frequent |
| Wide mouth |
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Synonyms:Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth |
Very frequent |
| Wide nasal bridge |
Increased breadth of the nasal bridge (and with it, the nasal root).
Synonyms:Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge |
Very frequent |