ORPHA:800
Schwartz-Jampel syndrome
Synonyms: Aberfeld syndrome · Burton skeletal dysplasia · Burton syndrome · Catel-Hempel syndrome · Dysostosis enchondralis metaepiphysaria, Catel-Hempel type · Myotonic chondrodystrophy · Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies · Osteochondromuscular dystrophy · SJS · SJS1 · Schwartz-Jampel syndrome type 1 · Schwartz-Jampel-Aberfeld syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schwartz-Jampel syndrome | Aberfeld syndrome · Burton skeletal dysplasia · Burton syndrome · Catel-Hempel syndrome · Dysostosis enchondralis metaepiphysaria, Catel-Hempel type · Myotonic chondrodystrophy · Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies · Osteochondromuscular dystrophy · SJS · SJS1 · Schwartz-Jampel syndrome type 1 · Schwartz-Jampel-Aberfeld syndrome |
| fr | Syndrome de Schwartz-Jampel | Dysplasie squelettique de Burton · Dystrophie ostéo-chondro-musculaire · Myotonie chondrodystrophique · Syndrome d'Aberfeld · Syndrome de Burton · Syndrome de Catel-Hempel · Syndrome de Schwartz-Jampel type 1 · Syndrome de Schwartz-Jampel-Aberfeld |
| de | Schwartz-Jampel-Syndrom | Aberfeld-Syndrom · Burton Skelettdysplasie · Burton-Syndrom · Catel-Hempel-Syndrom · Chondrodystrophie, myotone · Dysostosis enchondralis metaepiphysaria vom Catel-Hempel Typ · Osteo-chondro-muskuläre Dystrophie · SJS · SJS1 · Schwartz-Jampel-Aberfeld-Syndrom · Schwartz-Jampel-Syndrom Typ 1 |
| es | Síndrome de Schwartz-Jampel | Condrodistrofia miotónica · Disostosis endocondral metaepifisaria tipo Catel-Hempel · Displasia esquelética de Burton · Distrofia osteocondromuscular · Miopatía miotónica, enanismo, condrodistrofia, anomalías oculares y faciales · SJS · SJS1 · Síndrome de Aberfeld · Síndrome de Burton · Síndrome de Catel-Hempel · Síndrome de Schwartz-Jampel tipo 1 · Síndrome de Schwartz-Jampel-Aberfeld |
| it | Sindrome di Schwartz-Jampel | Condrodistrofia miotonica · Disostosi encondrale metaepifisaria, tipo Catel-Hempel · Displasia scheletrica di Burton · Distrofia osteo-condro-muscolare · Miopatia miotonica - nanismo - condrodisplasia - anomalie oculari e facciali · SJS · SJS1 · Sindrome di Aberfeld · Sindrome di Burton · Sindrome di Catel-Hempel · Sindrome di Schwartz-Jampel, tipo 1 · Sindrome di Schwartz-Jampel-Aberfeld |
| nl | Syndroom van Schwartz-Jampel | Dysostosis enchondralis metaepiphysaria, Catel-Hempel-type · Myotone chondrodystrofie · Myotone myopathie, dwerggroei, chondrodystrofie, oculaire en faciale anomalieën · Osteochondromusculaire dystrofie · SJS · SJS1 · Skeletdysplasie van Burton · Syndroom van Aberfeld · Syndroom van Burton · Syndroom van Catel-Hempel · Syndroom van Schwartz-Jampel type 1 · Syndroom van Schwartz-Jampel-Aberfeld |
| pt | Síndrome Schwartz-Jampel | Condrodistrofia miotónica |
| pl | Zespół Schwartza i Jampela | Choroba Burtona · Chrzęstna dysostoza metaepifizealna, typu Catela i Hempela · Dysplazja szkieletowa Burtona · Dystrofia kostno-chrzęstno-mięśniowa · Miopatia miotoniczna, karłowatość, chondrodystrofia, anomalie oka i twarzy · Miotoniczna chondrodystrofia · SJS · SJS1 · Zespół Aberfelda · Zespół Burtona · Zespół Catela i Hempela · Zespół Schwartza i Jampela typu 1 · Zespół Schwartza, Jampela i Aberfelda |
| cs | Schwartzův-Jampelův syndrom | Burtonova skeletální dysplázie · Myotonická chondrodystrofie · Osteochondromuskulární dystrofie · SJS · SJS1 · Aberfeldův syndrom · Burtonův syndrom · Catelův-Hempelův syndrom · Dysostosis enchondralis metaepiphysaria, Catelův-Hempelův typ · Myotonická myopatie, trpaslictví, chondrodystrofie, anomálie očí a tváře · Schwartzův-Jampelův syndrom 1. typu · Schwartzův-Jampelův-Aberfeldův syndrom · Schwartz-Jampelův syndrom · Catel-Hempelův syndrom · Dysostosis enchondralis metaepiphysaria, Catel-Hempelův typ · Schwartz-Jampelův syndrom 1. typu · Schwartz-Jampel-Aberfeldův syndrom |
| uk | Синдром Шварца-Ямпеля | Синдром Аберфельда · Скелетна дисплазія Бертона · Синдром Бертона · Синдром Кателя-Гемпеля · Дизостоз енхондральної метаепіфізарії, тип Кателя-Гемпеля · Міотонічна хондродистрофія · Міотонічна міопатія, карликовість, хондродистрофія, очні та лицьові аномалії · Остеохондро-мязова дистрофія · Синдром Шварца-Ямпеля, тип 1 · Синдром Шварца-Ямпеля-Аберфельда · SJS · SJS1 |
| zh | Schwartz-Jampel综合征 | 肌强直性肌病-侏儒-软骨营养不良-眼面畸形 |
| tr | Schwartz-Jampel Sendromu | SJS · SJS1 · Burton sendromu · Aberfeld sendromu · Catel-Hempel sendromu · Burton iskelet displazisi · Miyotonik kondrodistrofi · Osteokondrokas distrofi · Schwartz-Jampel sendromu tip 1 · Schwartz-Jampel-Aberfeld sendromu · Disostoz enkondralis metaepifizarya, Catel-Hempel tipi · Miyotonik miyopati, cücelik, kondrodistrofi, oküler ve fasiyal anomalileri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255800 | E | validated | |
| ICD-10 | G71.1 | NTBT | attributed | validated |
| ICD-10 | Q78.8 | NTBT | index | validated |
| ICD-11 | 8C71.1 | E | specific | validated |
| MONDO | 0009717 | E | validated | |
| UMLS | C0036391 | E | validated | |
| GARD | 250 | E | validated | |
| MedDRA | 10082378 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:206973Congenital myotonia
rare genetic diseases; rare neurological diseases - ORPHA:206644Progressive muscular dystrophy
rare genetic diseases; rare neurological diseases - ORPHA:674499Proteoglycan-related bone disorder
rare genetic diseases - ORPHA:207101Qualitative or quantitative defects of perlecan
rare genetic diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPG2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5273 | ENSG00000142798 | 142461 | 1p36.12 | heparan sulfate proteoglycan 2 | 19367640[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 129 cases | Worldwide | Case(s) | Validated | 26436077[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26436077[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
112 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0006487 | Bowing of the long bones | |
| HP:0003457 | EMG abnormality | |
| HP:0012544 | Elevated circulating aldolase concentration | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000293 | Full cheeks | |
| HP:0001288 | Gait disturbance | |
| HP:0002857 | Genu valgum | |
| HP:0001385 | Hip dysplasia | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0010508 | Metatarsus valgus | |
| HP:0002983 | Micromelia | |
| HP:0002486 | Myotonia | |
| HP:0000160 | Narrow mouth | |
| HP:0001763 | Pes planus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000205 | Pursed lips | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000211 | Trismus | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000600 | Abnormality of the pharynx | |
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0000581 | Blepharophimosis | |
| HP:0000518 | Cataract | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0012368 | Flat face | |
| HP:0005830 | Flexion contracture of toe | |
| HP:0000218 | High palate | |
| HP:0003273 | Hip contracture | |
| HP:0003307 | Hyperlordosis | |
| HP:0001265 | Hyporeflexia | |
| HP:0002808 | Kyphosis | |
| HP:0000298 | Mask-like facies | |
| HP:0000347 | Micrognathia | |
| HP:0003198 | Myopathy | |
| HP:0000545 | Myopia | |
| HP:0000939 | Osteoporosis | |
| HP:0000396 | Overfolded helix | |
| HP:0000768 | Pectus carinatum | |
| HP:0000926 | Platyspondyly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0003044 | Shoulder flexion contracture | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0003306 | Spinal rigidity | |
| HP:0000486 | Strabismus | |
| HP:0001621 | Weak voice | |
| HP:0001239 | Wrist flexion contracture | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0100795 | Abnormally straight spine | |
| HP:0000739 | Anxiety | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0002104 | Apnea | |
| HP:0011675 | Arrhythmia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000643 | Blepharospasm | |
| HP:0004326 | Cachexia | |
| HP:0000175 | Cleft palate | |
| HP:0001522 | Death in infancy | |
| HP:0004325 | Decreased body weight | |
| HP:0008734 | Decreased testicular size | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000689 | Dental malocclusion | |
| HP:0009743 | Distichiasis | |
| HP:0001618 | Dysphonia | |
| HP:0001083 | Ectopia lentis | |
| HP:0003042 | Elbow dislocation | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000023 | Inguinal hernia | |
| HP:0000737 | Irritability | |
| HP:0001601 | Laryngomalacia | |
| HP:0007740 | Long eyelashes in irregular rows | |
| HP:0000343 | Long philtrum | |
| HP:0000294 | Low anterior hairline | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0100612 | Odontogenic neoplasm | |
| HP:0000767 | Pectus excavatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0001557 | Prenatal movement abnormality | |
| HP:0003179 | Protrusio acetabuli | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000912 | Sprengel anomaly | |
| HP:0011069 | Supernumerary tooth | |
| HP:0001762 | Talipes equinovarus | |
| HP:0100813 | Testicular torsion | |
| HP:0001537 | Umbilical hernia | |
| HP:0002645 | Wormian bones | |
Run the differential on the 12 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/800
- This record as JSON: /data/d/800.json