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Schwartz Jampel syndrome

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Other Names:
Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Aberfeld syndrome; Burton skeletal dysplasia; Burton syndrome; Catel-Hempel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Osteochondromuscular dystrophy; Schwartz-Jampel syndrome; Schwartz-Jampel-Aberfeld syndrome; SJS; SJS1; Schwartz Jampel Aberfeld syndrome; Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities; SJA syndrome; Chondrodystrophic myotonia; Myotonic chondrodystrophy; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies See More
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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] 

Last updated: 7/20/2016
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]
Last updated: 7/20/2016

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.

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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
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Weak voice
Soft voice
0001621
Wrist flexion contracture 0001239
5%-29% of people have these symptoms
Abnormality of immune system physiology 0010978
Abnormality of the ribs
Rib abnormalities
0000772
Abnormality of the ureter 0000069
Abnormally straight spine 0100795
Anxiety
Excessive, persistent worry and fear
0000739
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye
[ more ] 		0008056
Apnea 0002104
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] 		0007018
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ] 		0000643
Cachexia
Wasting syndrome
0004326
Cleft palate
Cleft roof of mouth
0000175
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Decreased testicular size
Small testes
Small testis
[ more ] 		0008734
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Distichiasis 0009743
Dysphonia
Inability to produce voice sounds
0001618
Ectopia lentis 0001083
Elbow dislocation
Dislocations of the elbows
Elbow dislocations
[ more ] 		0003042
Feeding difficulties in infancy 0008872
Generalized hirsutism
Excessive hairiness over body
0002230
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Increased bone mineral density
Increased bone density
0011001
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] 		0011069
Inguinal hernia 0000023
Irritability
Irritable
0000737
Laryngomalacia
Softening of voice box tissue
0001601
Long eyelashes in irregular rows 0007740
Long philtrum 0000343
Low anterior hairline
Low frontal hairline
Low-set frontal hairline
[ more ] 		0000294
Malignant hyperthermia 0002047
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Muscle weakness
Muscular weakness
0001324
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Nephrolithiasis
Kidney stones
0000787
Odontogenic neoplasm 0100612
Pectus excavatum
Funnel chest
0000767
Polyhydramnios
High levels of amniotic fluid
0001561
Prenatal movement abnormality 0001557
Protrusio acetabuli 0003179
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Respiratory insufficiency
Respiratory impairment
0002093
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Sprengel anomaly
High shoulder blade
0000912
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Testicular torsion 0100813
Umbilical hernia 0001537
Wormian bones
Extra bones within cranial sutures
0002645
Percent of people who have these symptoms is not available through HPO
Abnormality of femoral epiphysis
Abnormality of thighbone end part
0006499
Anterior bowing of long bones 0006473
Autosomal recessive inheritance 0000007
Congenital hip dislocation
Dislocated hip since birth
0001374
Coronal cleft vertebrae 0003417
Joint contracture of the hand 0009473
Kyphoscoliosis 0002751
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Lumbar hyperlordosis
Excessive inward curvature of lower spine
0002938
Malar flattening
Zygomatic flattening
0000272
Metaphyseal widening
Broad wide portion of long bone
0003016
Narrow palpebral fissure
Small opening between the eyelids
0045025
Showing of 120 |
Last updated: 7/1/2020
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]
Last updated: 7/20/2016
Most cases of SJS are inherited in an autosomal recessive pattern.[2] This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS inherit one mutated copy of the gene from each parent. Each parent is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). 

Rarely, cases of SJS with autosomal dominant inheritance have been reported. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition.[2][4]
Last updated: 7/20/2016
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]
Last updated: 7/20/2016

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 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-seizure 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]
Last updated: 7/20/2016
Most individuals with SJS have a good long-term outlook (prognosis) with a nearly normal life expectancy. Symptoms may remain stable, or worsen over time, causing increased discomfort. There is an increased risk of malignant hyperthermia, which may lead to adverse outcomes if not identified prior to surgical intervention or managed correctly during surgery.[3]
Last updated: 7/22/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related 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.

Conditions with similar signs and symptoms from Orphanet
Schwartz-Jampel syndrome (SJS) is non-allelic with Stuve-Wiedemann syndrome, a severe skeletal dysplasia that is typically fatal during the neonatal period and was formerly described as SJS type 2. Other differential diagnosis should include Freeman Sheldon and Marden Walker syndrome and, in cases with minimal skeletal abnormalities, myotonic disorders ( including myotonia congenita, myotonia permamens, and myotonic dystrophy).
Visit the Orphanet disease page for more information.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Pearl PL & Philip S. Schwartz Jampel syndrome. National Organization of Rare Diseases. 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1058/viewAbstract.
  2. Schwartz-Jampel syndrome. Online Mendelian Inheritance in Man. 2010; http://omim.org/entry/255800.
  3. Ault J. Schwartz-Jampel Syndrome. Medscape. October 09, 2014; http://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. http://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. http://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. http://www.ncbi.nlm.nih.gov/pubmed/21263291.