SNP Shot: Genomic Insights

Spondyloepiphyseal dysplasia congenita (SEDC) is a genetic condition affecting bone development, leading to short stature (dwarfism), skeletal deformities, and potential vision and hearing impairments. The term "spondyloepiphyseal" refers to its impact on the spine ("spondylo-") and the ends ("epiphyses") of long bones in the limbs. "Congenita" signifies that the disorder is present at birth.

Individuals with SEDC exhibit short stature from birth, characterized by a disproportionately short trunk and neck, along with shortened arms and legs. Typically, their hands and feet are of average size. Adult height typically ranges between 3 and slightly over 4 feet. Spinal curvature abnormalities, such as kyphoscoliosis and lordosis, tend to worsen throughout childhood. Instability in the vertebrae of the neck can elevate the risk of spinal cord injury. Other skeletal characteristics include flattened vertebrae (platyspondyly), coxa vara (an abnormality of the hip joint causing inward rotation of the upper leg bones), clubfoot (a foot deformity), and a wide, barrel-shaped chest. Chest abnormalities can lead to respiratory difficulties. Arthritis and reduced joint movement often manifest early in life.

Individuals with SEDC may have subtle facial differences, such as flattened cheekbones near the nose. Some infants may be born with a cleft palate. High myopia (severe nearsightedness) is prevalent, along with other eye conditions that can compromise vision. Approximately 25% of individuals with SEDC experience hearing loss.

Inheritance:

SEDC follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the condition.