Alternative titles and symbols : Short-limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; Sponastrime dysplasia; Spondylar and nasal alterations with striated metaphyses;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the Tonsoku-like DNA repair protein gene (TONSL, 604546.0001);