Schwartz-Jampel syndrome
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).
MONDO:0016106
progressive muscular dystrophy
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016151
neuromuscular disease caused by qualitative or quantitative defects of perlecan
is_a
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
Aberfeld syndrome
exact
Catel-Hempel syndrome
exact
Catel-Hempel type dysostosis enchondralis metaepiphysaria
exact
Osteochondromuscular dystrophy
exact
SJS
exact
Schwartz Jampel Aberfeld syndrome
related
Schwartz Jampel Syndrome
exact
Schwartz Jampel syndrome
related
Schwartz-Jampel syndrome
exact
Schwartz-Jampel-Aberfeld syndrome
exact
burton skeletal dysplasia
exact
burton syndrome
exact
dysostosis enchondralis metaepiphysaria, Catel-Hempel type
exact
myotonic chondrodystrophy
exact
myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities
related
myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
exact
osteochondromuscular dystrophy
exact