What characteristics do patients with ALX1-related FND have in common?
Children with ALX1 mutations may have a range of deformations in the middle portion of their face — their nose, the distance between their eyes, upper lip and palate, and their brain. These may be mild and slightly noticeable to a nonexpert or may be severe and result in facial defects in the middle portion of the face. The deformations appear during baby’s development and may be severe enough to be detected by an ultrasound scan. Additionally, a small tail-like attachment may be present in the back. Some affected individuals could also have problems with some structures in their brains, such as absent corpus callosum and may have intellectual disability.
How do doctors understand my child has ALX1-related FND?
A doctor may suspect ALX1-related FND when they see the general characteristics of the disease mentioned above. However, these will not be enough to make a diagnosis of the disease, as there are diseases with similar appearance. The doctor will probably want to examine the bones by a CT scan. ALX1-related FND is a very rare genetic disease that appears as a result of the malfunction of a gene called ALX1. It is usually seen in children of parents who are close relatives, such as cousins. A doctor may ask for a blood test from your child and the parents to determine the genetic change in ALX1 gene and provide a definitive diagnosis.
An extensive description of the broad clinical spectrum of ALX1-related FND can be found in the Professionals – Clinical characteristics section.