Donnai-Barrow syndrome
faciooculoacousticorenal syndrome , FOARS (skrót)

Donnai-Barrow syndrome appears to be a rare disorder.

Donnai-Barrow syndrome is a genetic disorder.

Mutations in the LRP2 gene are associated with Donnai-Barrow syndrome.

Occasionally people with Donnai-Barrow syndrome have abnormalities of the intestine, heart, or other organs and scoliosis.

In almost all people with Donnai-Barrow syndrome, the tissue connecting the left and right halves of the brain (corpus callosum) is underdeveloped or absent.

LRP2 gene mutations that cause Donnai-Barrow syndrome are believed to result in the absence of functional megalin protein.

FOAR syndrome is now considered to be the same disorder as Donnai-Barrow syndrome.

Individuals with Donnai-Barrow syndrome have severe hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss).

Widow's peaks are a symptom of Donnai-Barrow syndrome, a rare genetic disorder caused by mutations in the LRP2 gene.

People with Donnai-Barrow syndrome may also have a hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia.

One individual with Donnai-Barrow syndrome was found to have inherited both copies of the mutated gene from his father as a result of a genetic change called uniparental disomy (UPD).

The features of Donnai-Barrow syndrome are probably caused by the inability of megalin to help absorb these ligands, disruption of biochemical signaling pathways, or other effects of the nonfunctional megalin protein.