[1] The acronym SHORT, which stands for characteristic traits seen in the majority of patients, is incorporated into the name of the condition.

[2] Additional clinical features include intrauterine growth restriction, facial dysmorphism (deep-set eyes, prominent forehead, hypoplastic or thin alae nasi, small chin, large low-set ears, border, and downturned mouth), wrinkled and thin skin emphasizing a progeroid appearance, and mild midface hypoplasia.

[3] Lipodystrophy, or the absence of adipose tissue beneath the skin, is another common characteristic of the condition that primarily affects the face, arms, and chest.

[2] Diagnosis is based on facial characteristics and molecular genetic testing that will show a mutation on gene PIK3R1 (5q13.1), which codifies the regulating alpha subunit of phosphatidylinositol 3-kinase.

This mutation can alter the PI3K/AKT/mTOR signal route, which plays an important role in cell growth and proliferation.