Total 107 clinical symptoms reported for Schwartz-Jampel syndrome  Very Frequent (23)Occasional (51)Frequent (33)

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
Abnormality of the metaphysis	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
Arthrogryposis multiplex congenita	Multiple congenital contractures in different body areas.   Synonyms:Arthrogryposis; Arthrogryposis multiplex; Arthrogryposis, congenital; Multiple congenital contractures	Very frequent
Bowing of the long bones	A bending or abnormal curvature of a long bone.   Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones	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
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
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
Genu valgum	The legs angle inward, such that the knees are close together and the ankles far apart.   Synonyms:Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees	Very frequent
Hip dysplasia	The presence of developmental dysplasia of the hip.   Synonyms:Congenital hip dysplasia	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
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
Joint stiffness	Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.   Synonyms:Joint stiffness; Stiff joint; Stiff joints	Very frequent
Low-set, posteriorly rotated ears	Ears that are low-set and posteriorly rotated.   Synonyms:Low-set posteriorly rotated ears	Very frequent
Metatarsus valgus	A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.	Very frequent
Micromelia	The presence of abnormally small extremities.   Synonyms:Smaller or shorter than typical limbs	Very frequent
Myotonia	An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.   Synonyms:Delayed relaxation of muscle fibers after contraction	Very frequent
Narrow mouth	Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).   Synonyms:Microstomia; Narrow mouth; Small mouth; Small oral aperture	Very frequent
Pes planus	A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.   Synonyms:Flat feet; Flat foot	Very frequent
Pursed lips	An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.   Synonyms:Pursed lips; Tightly closed lips	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
Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	Very frequent
Trismus	Limitation in the ability to open the mouth.   Synonyms:Lockjaw; Pain of muscles of mastication	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