Smith-McCort dysplasia

Smith-McCort dysplasia is a rare skeletal condition that affects bone growth and shape. People with this condition usually have distinctive facial features described as coarse facies and a short neck. They also often have short trunk dwarfism with a barrel-shaped chest and limbs that are shorter near the body (rhizomelic shortening). Radiological exams typically show flattened vertebrae (generalized platyspondyly) with double-humped ends and a lace-like appearance of the iliac crests. These features help guide doctors in making an accurate diagnosis. The clinical features of Smith-McCort dysplasia are similar to those seen in a related condition called Dyggve-Melchior-Clausen syndrome. However, people with Smith-McCort dysplasia do not experience the intellectual disabilities or small head size (microcephaly) seen in the related disorder. This distinction is critical in helping healthcare providers differentiate between these conditions.

Common signs and symptoms of Smith-McCort dysplasia include coarse facial features, a short neck, and a short trunk that leads to dwarfism. There is also a barrel-shaped chest and shortening of the limbs close to the body. A distinct set of radiological features, such as flattened vertebrae with double-humped end plates and a lace-like appearance of the pelvic bones, are important clues in identifying this condition.

The exact causes of Smith-McCort dysplasia are not fully understood. It is known to be an allelic disorder to Dyggve-Melchior-Clausen syndrome, meaning that while both conditions share similar skeletal features, they differ in other aspects such as intellectual development. There is no current information on specific gene mutations or other genetic risk factors associated with Smith-McCort dysplasia.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.