Total 56 clinical symptoms reported for Hurler syndrome
Abnormal heart valve morphology |
Any structural abnormality of a cardiac valve.
Synonyms:Abnormality of the heart valves; Valvular abnormality |
Very frequent |
Abnormal vertebral morphology |
An abnormality of one or more of the vertebrae.
Synonyms:Abnormal vertebrae; Abnormality of the vertebrae; Vertebral anomalies |
Very frequent |
Abnormality of the skeletal system |
An abnormality of the skeletal system.
Synonyms:Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies |
Very frequent |
Abnormality of the tonsils |
An abnormality of the tonsils.
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Very frequent |
Anteverted nares |
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils |
Very frequent |
Cardiomyopathy |
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Synonyms:Disease of the heart muscle |
Very frequent |
Cerebral palsy |
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
Synonyms:Cerebral paralysis; CP |
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 |
Depressed nasal bridge |
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge |
Very frequent |
Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protruberance; Skull bossing |
Very frequent |
Full cheeks |
Increased prominence or roundness of soft tissues between zygomata and mandible.
Synonyms:Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks |
Very frequent |
Generalized hirsutism |
Abnormally increased hair growth over much of the entire body.
Synonyms:Excessive hairiness over body |
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; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
Hernia |
This information is currently in development.
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Very frequent |
Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
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 |
Large face |
Synonyms:Big face; Large face; Large facies |
Very frequent |
Limitation of joint mobility |
A reduction in the freedom of movement of one or more joints.
Synonyms:Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion |
Very frequent |
Rhinitis |
Inflammation of the nasal mucosa with nasal congestion.
Synonyms:Nasal inflammation |
Very frequent |
Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
Skeletal dysplasia |
A general term describing features characterized by abnormal development of bones and connective tissues.
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Very frequent |
Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size |
Very frequent |
Thick eyebrow |
Increased density/number and/or increased diameter of eyebrow hairs.
Synonyms:Bushy eyebrows; Dense eyebrow; Heavy eyebrows; Hypertrichosis of the eyebrow; Prominent eyebrows; Thick eyebrow; Thick eyebrows |
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 |