(AKA Alfi's Syndrome)
The genetic affect of this disorder is part of the short end of the 9th chromosome being deleted or missing.
- Triangular shaped forehead
- Flat back of the head
- Widely spaced eyes
- Upward facing eyelids
- Highly arched eyebrows
- Highly arched roof of the mouth
Cause of This Disorder
The cause of this disorder is a portion of the “p” (short end of the 9th chromosome) being deleted or missing due to the failure of one or more pairs of homologous chromosomes or sister chromatids to separate during nuclear division, usually causing an abnormal distribution of chromosomes in the daughter nuclei.
This disorder can affect both males and females, but it affects females more often
How it is Inherited
It can be passed on due to balanced translocation in one of the parents or it can occur randomly.
A person who is affected who is affected will probably require multiple surgeries, have a psychologist and need a long term caregiver to help them do day to day activities.
Although there is no cure, it can be helped by surgeries on the skull and other deformed bones along with physical therapy.
There is currently not much research being done on this disorder because it is extremely rare.