Search for a rare disease
Other search option(s)
Spondylometaphyseal dysplasia, Schmidt type
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:93316Classification level: Disorder
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.
Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.