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Disease Profile
Schwartz Jampel syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
G71.1 Q78.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome;
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;
Summary
Schwartz Jampel
Symptoms
Short stature and other bone abnormalities, such as a short neck, outward-bowed chest (pectus carinatum), curved spine (kyphosis), a hip deformity (coxa valga), and fragile bones (osteoporosis )- Joint
contractures - Muscle abnormalities, such as an inability to relax muscles (myotonia), increased muscle size (hypertrophy), and muscle weakness
- Characteristic facial features, including a “fixed” expression; a small, puckered mouth; a small lower jaw (
micrognathia ); and eye abnormalities, such as narrow eye openings (blepharophimosis), involuntary blinking or eyelid spasms (blepharospasm), and skin that covers the inner corner of the eyes (epicanthal folds)
Less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS have an
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Arthrogryposis multiplex congenita | 0002804 | |
Elevated aldolase level | 0012544 | |
Elevated serum creatine kinase |
Elevated blood creatine phosphokinase
Elevated circulating creatine phosphokinase
Elevated creatine kinase
Elevated serum CPK
Elevated serum creatine phosphokinase
High serum creatine kinase
Increased CPK
Increased creatine kinase
Increased creatine phosphokinase
Increased serum CK
Increased serum creatine kinase
Increased serum creatine phosphokinase
[ more ] |
0003236 |
EMG abnormality | 0003457 | |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
Genu valgum |
Knock knees
|
0002857 |
Hip dysplasia | 0001385 | |
Hypertonia | 0001276 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Low-set, posteriorly rotated ears | 0000368 | |
Metatarsus valgus | 0010508 | |
Micromelia |
Smaller or shorter than typical limbs
|
0002983 |
Myotonia | 0002486 | |
Narrow mouth |
Small mouth
|
0000160 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Pursed lips |
Tightly closed lips
|
0000205 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Skeletal dysplasia | 0002652 | |
Trismus |
Lockjaw
|
0000211 |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
30%-79% of people have these symptoms | ||
Abnormal eyebrow morphology |
Abnormality of the eyebrow
|
0000534 |
Abnormality of the pharynx | 0000600 | |
Abnormally ossified vertebrae |
Abnormal bone maturation of vertebra
|
0100569 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Coxa valga | 0002673 | |
Coxa vara | 0002812 | |
Flat face |
Flat facial shape
|
0012368 |
Flexion contracture of toe | 0005830 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
High pitched voice | 0001620 | |
Hip contracture | 0003273 | |
Hyperlordosis |
Prominent swayback
|
0003307 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Mask-like facies |
Expressionless face
Lack of facial expression
Mask-like facial appearance
[ more ] |
0000298 |
Micrognathia |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 |
Myopathy |
Muscle tissue disease
|
0003198 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Osteoporosis | 0000939 | |
Overfolded helix |
Overfolded ears
|
0000396 |
Pectus carinatum |
Pigeon chest
|
0000768 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] |
0000426 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Shoulder flexion contracture | 0003044 | |
Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
Spinal rigidity |
Reduced spine movement
|
0003306 |
Cause SJS is caused by
Diagnosis SJS is diagnosed on the basis of characteristic facial features, skeletal features, and muscle stiffness (myotonia). Studies that may be useful in diagnosing SJS include: blood tests (which may show elevated serum creatine kinase or adolase);
Testing Resources
Treatment Treatment of SJS aims to reduce muscle stiffness and cramping and may include massage, muscle warming, and gradual strengthening exercises. Medications might also be used and may include muscle relaxants and anti
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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