Both X-linked Type I and Autosomal dominant Type II Optiz G/BBB<unk> s are caused by genetic mutations. However, while the X-linked form is caused by a mutation on the midline 1 (MID1) gene on the short (p) arm of the X chromosome; the autosomal dominant form is due to a mutation on chromosome 22. Both forms of the disease result in physical deformities along the centerline of the body. In X-linked Type I patients, the mutation in the MID1 gene leads to less functional midline-1 proteins. These proteins are responsible for binding to the cytoskeleton and assist the cell during cell division. It seems these issues with early cell division have a significant impact on the physical deformities that typically accompany the disease. Autosomal dominant Type II patients endure a mutation on chromosome 22, most commonly at 22q11.2. Some researchers consider<unk>  to be a type of 22q11.2 deletion<unk>  (a slightly different and broader disease). In some cases of autosomal dominant<unk> , the disease is caused by a mutation in the SPECC1L gene (near the 22q11.2 gene), which helps make cytospin-A. Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the cleft lip or palate that<unk>  patients will have. Since physical abnormalities can affect all body parts along the midline of the body, many different body systems are at risk of being damaged. Those systems commonly affected are the nervous, digestive, cardiovascular, respiratory and reproductive. Typically, those diagnosed with either type of<unk>  will also have ocular hypertelorism, or eyes that are excessively spaced apart. Patients will commonly experience physical defects in the larynx, trachea and esophagus and will often cause breathing and swallowing difficulties. Further facial anomalies may occur, such as a prominent forehead, widow’s peak, broad nasal bridge. Those with the disease may also experience hypospadias (urinary opening in males is not at the head of the penis) and developmental delay, as well.
Opitz G/BBB syndrome
Lown–Ganong–Levine syndrome
Long QT syndrome
Buschke–Ollendorff syndrome
Carney's triad
Short QT syndrome
Pacak–Zhuang syndrome
Pascual-Castroviejo syndrome type 1