Spondylometaphyseal dysplasia, Kozlowski type

Alternate names

Dysmorphism arthrogryposis skeletal maturation advanced; Jequier-Kozlowski syndrome; Skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type; Jequier Kozlowski skeletal dysplasia

Definition

Spondylometaphyseal dysplasia, Kozlowski type is a bone disease characterized by short stature involving the trunk. "Spondylo"refers to the spine (vertebrae), "metaphysis" refers to the wide part of the bone that contains the growth plate (the part of the bone that grows during childhood), and "dysplasia" means abnormal growth.

Cause

Spondylometaphyseal dysplasia, Kozlowski type is caused by mutations in the TRPV4 gene.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is autosomal dominant pattern.

Onset

It usually starts in early childhood.

Signs and symptoms

• It usually starts in early childhood when poor growth with uneven stature and a waddling gait with bow legs (genu varum) is noticed.
• Early osteoarthritis of the joints is also common.
• Other signs and symptoms include small hands and fingers, spine deformities, and X-ray showing short vertebra, mild metaphyseal changes, severe delay in ossification, square, short, flared iliac wings (the broadest part of the pelvic bone) and a flat and irregular hipbone.

Clinical presentation

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

• Coxa vara
• Flared metaphysis(Flared wide portion of long bone)
• Gait disturbance(Abnormal gait)
• Platyspondyly(Flattened vertebrae)
• Short stature(Decreased body height)
• Short thorax(Shorter than typical length between neck and abdomen)
• Spondylometaphyseal dysplasia

30%-79% of people have these symptoms

• [[Brachydactyly](Short fingers or toes)
• Delayed skeletal maturation(Delayed bone maturation)
• Depressed nasal bridge(Depressed bridge of nose)
• Enlarged joints
• Genu valgum(Knock knees)
• High forehead
• Kyphosis(Hunched back)
• Limitation of joint mobility(Decreased joint mobility)
• Pectus carinatum(Pigeon chest)
• Scoliosis
• Short neck(Decreased length of neck)

5%-29% of people have these symptoms

• Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
• Aplastic clavicle(Absent collarbone)
• Hypoplasia of the odontoid process
• Narrow chest(Low chest circumference)

Diagnosis

The diagnosis of an autosomal dominant TRPV4 disorder is established in a proband with characteristic clinical and neurophysiologic findings, radiographic findings in the skeletal dysplasias, and a heterozygous TRPV4 pathogenic variant identified on molecular genetic testing.[1].

Treatment

Treatment is surgical or the use of braces to align the spine.

References

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NIH genetic and rare disease info

• NIH info on Spondylometaphyseal dysplasia, Kozlowski type

Spondylometaphyseal dysplasia, Kozlowski type is a rare disease.

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