Total 67 clinical symptoms reported for Stickler syndrome
Abnormal form of the vertebral bodies |
Abnormal morphology of vertebral body.
Synonyms:Abnormally shaped vertebrae |
Very frequent |
Abnormal vitreous humor morphology |
Any structural anomaly of the vitreous body.
|
Very frequent |
Abnormality of epiphysis morphology |
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality |
Very frequent |
Arthralgia |
Joint pain.
Synonyms:Arthralgias; Joint pain |
Very frequent |
Cataract |
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity |
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 |
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 |
Hypoplasia of the maxilla |
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Synonyms:Decreased size of maxilla; Decreased size of upper jaw; Hypoplasia of upper jaw bones; Hypoplastic maxillary bones; Maxillary deficiency; Maxillary hypoplasia; Maxillary micrognathia; Maxillary retrognathia; Maxillary retrusion; Micromaxilla; Small maxilla; Small upper jaw; Small upper jaw bones; Upper jaw deficiency; Upper jaw retrusion |
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 |
Malar flattening |
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Synonyms:Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening |
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 |
Myopia |
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Synonyms:Close sighted; Near sighted; Near sightedness; Nearsightedness |
Very frequent |
Retinal detachment |
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Synonyms:Detached retina; Retinal detachment |
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 |
Skeletal dysplasia |
A general term describing features characterized by abnormal development of bones and connective tissues.
|
Very frequent |
Telecanthus |
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Synonyms:Corners of eye widely separated; Dystopia canthorum; Increased distance between medial canthi; Increased intercanthal distance |
Very frequent |
Visual impairment |
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Synonyms:Impaired vision; Loss of eyesight; Poor vision; Visual impairment |
Very frequent |