Schwartz-Jampel Syndrome, Type 1 (SJS1)

Alias:

Schwartz-Jampel Syndrome

Schwartz-Jampel-Aberfeld Syndrome

Schwartz-Jampel Syndrome Type 1

Sjs1

Sjs

Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular and Facial Anomalies

Osteochondromuscular Dystrophy

Chondrodystrophic Myotonia

Burton Skeletal Dysplasia

Myotonic Chondrodystrophy

Catel-Hempel Syndrome

Aberfeld Syndrome

Burton Syndrome

Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities

Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type

Schwartz-Jampel Syndrome 1

Sja Syndrome

Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis

Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria

Congenital Blepharophimosis, Myopia, Myopathy Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Schwartz-Jampel Syndrome, Type 1, also known as schwartz-jampel syndrome, is related to kyphomelic dysplasia and dyssegmental dysplasia, silverman-handmaker type, and has symptoms including muscle weakness An important gene associated with Schwartz-Jampel Syndrome, Type 1 is HSPG2 (Heparan Sulfate Proteoglycan 2). Affiliated tissues include bone and eye, and related phenotypes are intellectual disability and gait disturbance

Related ID：

MALACARDS：SCH068

OMIM：255800

ICD11：1725668060