Schwartz-Jampel syndrome (SJS) is a rare hereditary disorder with joint contractures, generalized myotonia, skeletal anomalies, and facial dysmorphism. Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different autosomal recessive disorder, sometimes termed SJS type 1 and SJS type 2. SJS type 1 results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. It exhibits muscle stiffness, mild muscle weakness, and a number of minor morphological abnormalities. In affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder with a more severe phenotype.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C71 Myotonic disorders
H01777 Schwartz-Jampel syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H01777 Schwartz-Jampel syndrome
nt06546 IgSF CAM signaling
H01777 Schwartz-Jampel syndrome
Silverman-Handmaker type of dyssegmental dysplasia is an allelic disorder with a more severe phenotype.
See also H00462 Stuve-Wiedemann syndrome and H00493 Heparan sulfate proteoglycan gene defects.
The dyssegmental dysplasia is a rare, autosomal recessive skeletal dysplasia with micromelia. There are two recognized types: the severe, lethal Silverman-Handmaker type (DDSH) and the milder Rolland-Desbuquois type. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. DDSH is caused by a functional null mutation of perlecan gene (HSPG2).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02155 Dyssegmental dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06539 Cytoskeleton in muscle cells
H02155 Dyssegmental dysplasia
nt06546 IgSF CAM signaling
H02155 Dyssegmental dysplasia
