SNP Shot: Genomic Insights

Acromicric dysplasia is a rare disorder defined by significant short stature, shortened arms and legs, restricted joint movement, and characteristic facial features.

Babies born with acromicric dysplasia are typically of normal size initially. However, their growth slows, leading to short stature. Adults with this condition often reach an average height of about 4'2" for women and 4'5" for men. The long bones in their arms and legs, as well as the bones in their hands and feet, are shorter than expected for their age. Other skeletal abnormalities associated with acromicric dysplasia include delayed bone maturation, unusually shaped spinal bones (vertebrae), and limited joint flexibility. Many individuals with acromicric dysplasia develop carpal tunnel syndrome, causing numbness, tingling, and weakness in the hands and fingers. Hip dysplasia, a misalignment of the hip joints, can also occur. While these skeletal and joint issues may require medical intervention, most individuals with acromicric dysplasia experience minimal limitations in their daily lives.

Children with acromicric dysplasia might exhibit a rounded face, prominent eyebrows, long eyelashes, a bulbous nose with upturned nostrils, an elongated philtrum (the area between the nose and upper lip), and a small mouth with full lips. These distinctive facial features tend to become less noticeable as individuals age. Importantly, intelligence is not affected by this disorder, and life expectancy is generally within the normal range.

Inheritance:

Acromicric dysplasia follows an autosomal dominant inheritance pattern. This means that having only one copy of the mutated gene in each cell is enough to cause the condition. Most cases arise from new, spontaneous mutations in the gene, occurring in individuals with no family history of the disorder. In other instances, a person with acromicric dysplasia inherits the mutated gene from one affected parent.