Spondylometaphyseal dysplasia corner fracture type

Alternate names

Spondylometaphyseal dysplasia Sutcliffe type; Sutcliffe type of spondylometaphyseal dysplasia; Sutcliffe SMD

Definition

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Epidemiology

Less than 30 patients have been reported in the literature.

Cause

Currently, there are no human genes associated with the disease.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Autosomal dominant inheritance has been suggested.

Signs and symptoms

Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.

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)
• Coxa vara
• Hypoplasia of the odontoid process
• Metaphyseal irregularity(Irregular wide portion of a long bone)
• Micromelia(Smaller or shorter than typical limbs)
• Mild short stature
• Ovoid vertebral bodies
• Recurrent fractures(Increased fracture rate)
• Spondylometaphyseal dysplasia

30%-79% of people have these symptoms

• Hyperlordosis(Prominent swayback)

5%-29% of people have these symptoms

• Genu valgum(Knock knees)
• Kyphosis(Hunched back)
• Pes planus(Flat feet)
• Scoliosis
• Tetralogy of Fallot

1%-4% of people have these symptoms

• Genu varum(Outward bow-leggedness)
• Pectus carinatum(Pigeon chest)

NIH genetic and rare disease info

• NIH info on Spondylometaphyseal dysplasia corner fracture type

Spondylometaphyseal dysplasia corner fracture type is a rare disease.

Resources

Frequently asked questions

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