Spondylometaphyseal dysplasia Algerian type
Alternate names[edit]
Spondylometaphyseal dysplasia Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Schmid metaphyseal dysostosis; Japanese type spondylometaphyseal dysplasia
Definition[edit]
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.
Epidemiology[edit]
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.
Cause[edit]
The causative gene has not yet been identified.
Inheritance[edit]
Autosomal dominant inheritance has been suggested.
Signs and symptoms[edit]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
80%-99% of people have these symptoms
- Abnormality of the wrist(Abnormalities of the wrists)
- Genu valgum(Knock knees)
- Kyphoscoliosis
- Metaphyseal dysplasia
- Micromelia(Smaller or shorter than typical limbs)
- Myopia(Close sighted)
- Short long bone(Long bone shortening)
- Short stature(Decreased body height)
- Spondylometaphyseal dysplasia
30%-79% of people have these symptoms
- Hypoplastic pelvis
- Joint dislocation(Joint dislocations)
- Platyspondyly(Flattened vertebrae)
Diagnosis[edit]
Treatment[edit]
NIH genetic and rare disease info[edit]
Spondylometaphyseal dysplasia Algerian type is a rare disease.
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Rare diseases - Spondylometaphyseal dysplasia Algerian type
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