Sponastrime dysplasia

Sponastrime dysplasia is a rare genetic disorder characterized by various skeletal abnormalities, growth retardation, and distinctive facial features. It was first described in the medical literature by Spranger et al. in 1980. The term "sponastrime" is an acronym derived from the major features of the disorder: spondylar abnormalities, nasal hypoplasia, striations of the metaphysis, and metaphyseal dysplasia.

Clinical Features

The clinical features of sponastrime dysplasia are variable and may differ significantly among affected individuals. However, common features include:

• Growth Retardation: Affected individuals often exhibit prenatal and postnatal growth retardation, resulting in short stature.
• Skeletal Abnormalities: These may include scoliosis, kyphosis, pectus carinatum, and various abnormalities of the hands, feet, and limbs.
• Facial Features: Distinctive facial features may include a prominent forehead, a flat nasal bridge, and a small, upturned nose.

Genetics

Sponastrime dysplasia is believed to be an autosomal recessive disorder, which means that two copies of an abnormal gene must be present in order for the disease or trait to develop. The exact genetic cause of the disorder is currently unknown.

Diagnosis

Diagnosis of sponastrime dysplasia is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These may include advanced imaging techniques, such as computed tomography (CT) scans and magnetic resonance imaging (MRI), to detect characteristic abnormalities associated with the disorder.

Treatment

There is currently no cure for sponastrime dysplasia. Treatment is symptomatic and supportive, and may include physical therapy, surgical intervention for skeletal abnormalities, and other supportive measures.

See Also

• List of genetic disorders
• Skeletal dysplasia
• Growth retardation

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