Monosomy 9p is also called 9p minus and Alfi syndrome. It is an extremely rare genetic disorder with an estimated 125 people with the condition in the United States. The chromosomal distortion caused by monosomy 9p concerns the ninth chromosome. People with this condition are missing part of their ninth chromosome. This removal leads to a variety of conditions and complications.
Since the condition is so rare, there are few studies on it. What can be said about monosomy 9p is that the missing parts cause a number of symptoms to appear, and geneticists believe that the deletion of chromosome parts occurs very early in the fetal growth process and has no cause. identifiable.
People with monosomy 9p are likely to have distorted facial features, very similar to those of children with Down syndrome. The nose is normally flat, with flared nostrils, the eyelids fold up, and the forehead may be wide. As with Down syndrome, stature tends to be short. Mild to severe mental retardation is often present, and children with monosomy 9p are characterized as extremely friendly and trusting of strangers. Unlike Down syndrome, children with the condition often have smaller-than-normal heads, called microcephaly.
Other medical conditions associated with monosomy 9p include microgenitalia; that is, very small genitalia, sometimes almost absent. Gender identification in babies can be tricky. People with monosomy 9p can also have other health problems, which can affect survival and longevity. Many affected by the condition have congenital heart defects, and some have esophageal defects. Other abnormalities of growth, organ placement or development, and cognitive development may be present.
The severity of monosomy 9p greatly influences the amount of extra care that will be needed for a child with this condition. Some can live fairly normal lives, especially when cognitive impairment is minor and there are few structural organ defects. For severe cases, the condition may correspond to a short lifespan and requires ongoing attention from parents or caregivers.
There are a variety of groups that can help provide more information and help, including the March of Dimes, the Children's Craniofacial Association, and the Chromosome Deletion Outreach.