Total 42 clinical symptoms reported for Weaver syndrome
| Abnormal fingernail morphology |
An abnormality of the fingernails.
Synonyms:Abnormal fingernails; Abnormality of the fingernails |
Very frequent |
| Abnormal metaphysis morphology |
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Synonyms:Abnormality of the wide portion of a long bone |
Very frequent |
| Abnormally low-pitched voice |
A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual.
Synonyms:Low pitched voice; Low-pitched voice |
Very frequent |
| Accelerated skeletal maturation |
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Advanced bone age; Early bone maturation |
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 |
| Deep-set nails |
Deeply placed nails.
Synonyms:Deep-set nails |
Very frequent |
| Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
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 |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Hypertonia |
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Synonyms:Hypertonicity; Increased muscle tone |
Very frequent |
| Hypoplastic toenails |
Underdevelopment of the toenail.
Synonyms:Underdeveloped toenails |
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by 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 |
| 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 |
| Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly |
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; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; 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 |
| Posteriorly rotated ears |
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears |
Very frequent |
| Redundant skin |
Loose and sagging skin often associated with loss of skin elasticity.
Synonyms:Loose redundant skin; Redundant skin folds; Sagging, redundant skin |
Very frequent |
| Retrognathia |
An abnormality in which the mandible is mislocalised posteriorly.
Synonyms:Lower jaw retrognathia; Lower jaw retrusion; Mandibular retrognathia; Mandibular retrusion; Receding chin; Receding lower jaw; Receding mandible; Retrognathia of lower jaw; Retrusion of lower jaw; Weak chin; Weak jaw |
Very frequent |
| Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Very frequent |
| Tall stature |
A height above that which is expected according to age and sex norms.
Synonyms:Accelerated linear growth; Increased body height; Increased linear growth; Tall stature |
Very frequent |
| Thin nail |
Nail that appears thin when viewed on end.
Synonyms:Thin nail; Thin nails |
Very frequent |