Total 53 clinical symptoms reported for Noonan syndrome
| Abnormality of cardiovascular system morphology |
Any structural anomaly of the heart and great vessels.
Synonyms:Cardiovascular malformations |
Very frequent |
| Aplasia/Hypoplasia of the abdominal wall musculature |
Absence or underdevelopment of the abdominal musculature.
Synonyms:Absent/small abdominal wall muscles; Absent/underdeveloped abdominal wall muscles |
Very frequent |
| Cystic hygroma |
A cystic lymphatic lesion of the neck.
Synonyms:Cystic hygroma of the neck |
Very frequent |
| Downslanted palpebral fissures |
The palpebral fissure inclination is more than two standard deviations below the mean.
Synonyms:Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted |
Very frequent |
| Dysarthria |
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Synonyms:Difficulty articulating speech; Dysarthric speech |
Very frequent |
| Enlarged thorax |
Synonyms:Wide rib cage; Wide thorax |
Very frequent |
| High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
| High palate |
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Synonyms:Elevated palate; High arched palate; High palate; High, arched palate; High-arched palate; Increased palatal height; Palate high-arched; Palate, high-arched |
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 |
| Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Synonyms:Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism) |
Very frequent |
| Joint hyperflexibility |
Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
Synonyms:Joints move beyond expected range of motion |
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 |
| 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 |
| Midface retrusion |
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Synonyms:Decreased size of midface; Flat midface; Hypoplasia of midface; Midface deficiency; Midface hypoplasia; Midface retrusion; Midface, flat; Retrusive midface; Underdevelopment of midface |
Very frequent |
| Muscle weakness |
Reduced strength of muscles.
Synonyms:Muscle weakness; Muscular weakness |
Very frequent |
| Neurological speech impairment |
Synonyms:Speech disorder; Speech impairment; Speech impediment |
Very frequent |
| Pectus carinatum |
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Synonyms:Pigeon chest |
Very frequent |
| Pectus excavatum |
A defect of the chest wall characterized by a depression of the sternum, giving the chest ('pectus') a caved-in ('excavatum') appearance.
Synonyms:Funnel chest |
Very frequent |
| Proptosis |
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Synonyms:Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi |
Very frequent |
| Ptosis |
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Synonyms:Blepharoptosis; Drooping upper eyelid; Eyelid ptosis |
Very frequent |
| Pulmonary artery stenosis |
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Synonyms:Narrowing of lung artery |
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 |
| Thickened helices |
Increased thickness of the helix of the ear.
Synonyms:Thick helix |
Very frequent |
| Triangular face |
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Synonyms:Face with broad temples and narrow chin; Triangular face; Triangular facial shape; Triangular facies |
Very frequent |
| Webbed neck |
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Synonyms:Neck webbing; Pterygium colli; Webbed neck |
Very frequent |
| Wide intermamillary distance |
A larger than usual distance between the left and right nipple.
Synonyms:Wide-spaced nipples; Widely spaced nipples; Widely-spaced nipples |
Very frequent |