Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic disease · Autosomal recessive disease · Spondyloepiphyseal dysplasia · Neuromuscular disease caused by qualitative or quantitative defects of perlecan
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).
-
Schwartz-Jampel syndrome type 1 0 trials
-
Stüve-Wiedemann syndrome 1 0 trials