Monosomy 9p, also known as 9p minus or Alfi syndrome, is a rare genetic disorder caused by the deletion of part of the ninth chromosome. It can lead to a variety of conditions and complications, including distorted facial features, microcephaly, and mental retardation. Additional care is often required, and there are organizations that can provide support and information.
Monosomy 9p is also called 9p minus and Alfi syndrome. It is an extremely rare genetic disorder with approximately 125 people with the condition in the United States. The chromosome distortion that causes monosomy 9p affects the ninth chromosome. People with this condition are missing part of their ninth chromosome. This elimination leads to a variety of conditions and complications.
Because the condition is so rare, there are few studies on it. What can be said about monosomy 9p is that the missing parts bring out a variety of symptoms and geneticists believe that the deletion of chromosome parts occurs very early in the fetal growth process and has no identifiable cause.
People with monosomy 9p are likely to have distorted facial features, much like those children with Down syndrome. The nose is normally flat, with the nostrils dilated, the folds of the eyelids slanting upwards, and the forehead may be broad. As with Down syndrome, stature tends to be short. Mild to severe mental retardation is usually present, and children with this condition are characterized as being extremely friendly and trusting around strangers. Unlike Down syndrome, babies with the condition often have smaller-than-normal heads, called microcephaly.
Other medical conditions associated with monosomy 9p include microgenitals; that is, very small genitalia, sometimes almost absent. Gender identification in newborns can be tricky. People with this condition may 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 organ growth, placement, or development, and cognitive development may be present.
The severity of monosomy 9p greatly influences the amount of additional care needed for a child with the condition. Some are able to live fairly normal lives, especially when cognitive impairment is minor and there are few structural organ defects. For the most severe cases, the condition can be short-lived and require ongoing care from parents or guardians.
There are a variety of groups that can help provide more information and help, including the March of Dimes, Children’s Craniofacial Association, and Chromosome Deletion Outreach.
Protect your devices with Threat Protection by NordVPN
