Spondylometaphyseal dysplasia Algerian type

Alternate names

Spondylometaphyseal dysplasia Schmidt type; Spondylometaphyseal dysplasia with severe genu valgum; Schmid metaphyseal dysostosis; Japanese type spondylometaphyseal dysplasia

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.

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.

Cause

The causative gene has not yet been identified.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Autosomal dominant inheritance has been suggested.

Signs and symptoms

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)

NIH genetic and rare disease info

• NIH info on Spondylometaphyseal dysplasia Algerian type

Spondylometaphyseal dysplasia Algerian type is a rare disease.

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