What is metatropic dysplasia?

The term metatropic comes from a Greek word meaning “changing form.” Patients with metatropic dysplasia have an abnormality in their growth plates.  The result is the wide portion of a long bone (the metaphyses) is knobby in appearance and the spine has a flattening of the vertebral bodies. The individuals appear to have short limbs early in life but later develop a short trunk.

Metatropic dysplasia is a rare condition which is genetically transmitted autosomal dominant, meaning that a dominant gene from one parent is enough to cause the disorder.

What are the symptoms of metatropic dysplasia?

The following symptoms are common among patients with metatropic dysplasia:

• coccyx (tailbone) that is longer and is seen below the buttocks

• facial appearance may include a high forehead

• limbs may be short and flexed

• neck may be unstable

• scoliosis (curvature of the spine) occurs early and is progressive.

Some patients also have hydrocephalus and or restrictive lung disease.

Orthopedic Conditions Seen in Patients with Metatrophic Dysplasia

Orthopedic conditions common among patients with metatrophic dysplasia include:

• cervical instability: can cause weakness and quadriplegia

• scoliosis: curvature of the spine. Monitor with x-rays.

• kyphosis sharp angular rounding of the back which can lead to spinal stenosis (narrowing of the spinal cord).

Metatropic Dysplasia Diagnosis

A prenatal sonogram may show signs of the disorder including a narrow chest and a dumbbell appearance in the long bones. But most often, a doctor makes the diagnosis of metatropic dysplasia with a complete medical history, physical examination, and diagnostic tests.   

Diagnostic procedures may include:

• X-rays of the cervical spine to monitor neck stability and of the thoracic and lumbar spine to evaluate for kyphosis and scoliosis

• MRI of the spine cervical thoracic and lumbar spine may be taken to monitor cervical instability and spinal stenosis.

Metatropic Dysplasia Treatment

Treatment for metatropic dysplasia varies depending on the associated orthopedic conditions that present in the patient. For example:

• cervical instability: treatment may include a spinal fusion and decompression if there is stenosis present, as well as possible placement of a halo

• scoliosis: treatment may include a spinal fusion