SNP Shot: Genomic Insights

SHORT syndrome, an acronym for short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, is a rare condition affecting multiple body systems.

Individuals with SHORT syndrome are typically small at birth and experience slow weight gain during childhood. Adults with the syndrome often exhibit short stature compared to their family members. Lipoatrophy, a deficiency of subcutaneous fat, is common, particularly affecting the face, arms, and chest. The combination of fat loss, thin, wrinkled skin, and prominent veins gives affected individuals a prematurely aged appearance, sometimes referred to as progeroid.

Distinctive facial features are prevalent in SHORT syndrome, including a triangular face with a prominent forehead, deep-set eyes (ocular depression), thin nostrils, a downturned mouth, and a small chin. Eye abnormalities are common, notably Rieger anomaly, which impacts the anterior structures of the eye. Rieger anomaly can elevate eye pressure (glaucoma) and lead to vision loss. Dental issues, such as delayed tooth eruption, small teeth, hypodontia (fewer teeth than normal), and enamel defects, may also occur.

Additional reported symptoms of SHORT syndrome include immune system dysfunction, nephrocalcinosis (a kidney disorder), hearing loss, hyperextensible joints, and inguinal hernias (soft protrusions in the lower abdomen). Some individuals may develop glucose regulation problems, including insulin resistance and diabetes. While most people with SHORT syndrome have normal intelligence, mild cognitive impairment or delayed speech development has been observed in some cases.

Inheritance:

SHORT syndrome follows an autosomal dominant inheritance pattern, meaning that a single copy of a mutated PIK3R1 gene is sufficient to cause the condition. In the majority of cases, the syndrome arises from a new gene mutation, occurring in individuals without any family history of the disorder. Alternatively, the mutation can be inherited from an affected parent.