Diseases

Schwartz-Jampel Syndrome, Type 1

schwartz-jampel syndrome, type 1

Entity Type: Diseases
Relation Groups: 3
Relation Preview: 24

Basic Information

Grouped by core information, identifiers, and descriptions.

Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.

Core Information

Disease Name: Schwartz-Jampel Syndrome, Type 1
Standard Disease Name: schwartz-jampel syndrome, type 1
MeSH Tree: No data
ICD-10: G71.1|Q78.8

Identifiers

DO ID: No data
MeSH ID: D010009
OMIM ID: 255800
UMLS ID: C0036391
HPO ID: No data

Description and Extensions

Description: NCI2016_02D:A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower.|JABL99:A syndrome of short stature; generalized myotonia with contractures of major joints, microstomia, and muscle rigidity; ocular anomalies, mainly blepharophimosis; and characteristic facies marked by pinched or frozen smile puckered lips. Some degree of mental retardation occurs in about 25% of patients. The affected children usually appear normal at birth and the symptoms become recognizable at 1 to 3 years of age. Malignant hyperthermia is a potentially lethal hazard during anesthesia.

Direct relations and traceable candidates grouped by relation type.