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Disease Profile

Schwartz Jampel syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

Schwartz Jampel syndrome (SJS) is a genetic disorder that affects bone and muscle development. Signs and symptoms may include muscle stiffness and weakness; joint deformities that affect mobility (contractures); short stature; small "fixed" facial features; and eye abnormalities.[1] Previously, SJS was divided into types 1 and 2. SJS type 2 (also refereed to as neonatal SJS) is now considered a distinct, more severe condition called Stuve-Wiedemann syndrome, which is caused by mutations in the LIFR gene.[2][1] SJS is subdivided into types 1A and 1B, differentiated by severity and age of onset. Type 1A, considered classic SJS, is the most commonly recognized type. People with type 1A typically develop more mild symptoms later in childhood, while individuals with type 1B have symptoms that are more severe and are apparent immediately after birth.[3] SJS is caused by mutations in the HSPG2 gene.[2] SJS is thought to be inherited in an autosomal recessive manner; however, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.[1] Treatment for type 1A and 1B aims to normalize muscle activity through various methods including massage and stretching, medications such as botulinum toxin (Botox), and surgery.[3] 

Symptoms

The main signs and symptoms of SJS include the following:[3][4][5]

  • 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 intellectual disability; however, most individuals with SJS have normal intelligence.[3][4][5]

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
Cataract
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
Ptosis
Drooping upper eyelid
0000508
Scoliosis
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
Strabismus

Cause

SJS is caused by mutations in the HSPG2 gene. The HSPG2 gene provides instructions for making the protein perlecan, which is found in muscle and cartilage. Although function of perlecan is not fully understood, it is thought to play an essential role in many biological activities such as cell signaling and cellular structure. In SJS, it is suspected that abnormal perlecan function leads to a deficiency of acetylcholinesterase, an enzyme involved in breaking down acetylcholine, a chemical (neurotransmitter) that sends messages between nerves, leading to muscle contraction. If acetylcholine is not broken down, it can lead to prolonged muscle contraction or stiffening of the muscles (myotonia).[6][3][7]

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); imaging studies (X-ray); muscle biopsy; and electromyography (EMG)/nerve conduction studies. Genetic testing of the HSPG2 gene may confirm the diagnosis.[3][5]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    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 antiseizure medications, particularly carbamazepine. Botox might additionally be used to relieve eye symptoms such as blepharospasm. If Botox is not successful in managing eye symptoms, a variety of surgical techniques have been found to be effective. When considering surgery as an option, an important consideration is malignant hyperthermia, an associated complication, that can increase the risk of adverse outcomes.[3][7]

    Organizations

    Support 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 more

      These 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

      • Genetics Home Reference (GHR) contains information on Schwartz Jampel syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Schwartz Jampel syndrome. Click on the link to view a sample search on this topic.

          References

          1. Pearl PL & Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2012; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract.
          2. Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; https://omim.org/entry/255800.
          3. Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; https://emedicine.medscape.com/article/1172013-overview.
          4. Keivan Basiri, Farzad Fatehi, Bashar Katirji. The Schwartz-Jampel syndrome: Case report and review of literature. Adv Biomed Res. August 10, 2015; 4:163. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4581134/.
          5. Sadanandavalli Retnaswami Chandra, Thomas Gregor Issac, N. Gayathri, Sumanth Shivaram. Schwartz–Jampel syndrome. J Pediatr Neurosci. Apr-Jun 2015; 10(2):169-171. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4489067/.
          6. HSPG2. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/HSPG2.
          7. Nessler M, Puchala, J, Kwiatkowski S, Kobylarz K, Mojsa I & Chrapusta-Klimeczek A. Multidisciplinary Approach to the Treatment of a Patient With Chondrodystrophic Myotonia (Schwartz-Jampel vel Aberfeld Syndrome): Case Report and Literature Review. Annals of Plastic Surgery. September 2011; 67(3):315-9. https://www.ncbi.nlm.nih.gov/pubmed/21263291.

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