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Spondylometaphyseal dysplasia, Schmidt type
Disease definition
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
ORPHA:93316
Classification level: DisorderSummary
Epidemiology
This condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder.
Etiology
Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.
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