Aarskog syndrome, also known as Facial-digital-genital syndrome is named after Dagfin Aarskog who first brought the problem to the fore around 1970.
What is Aarskog Syndrome?
It is a rare genetic physical disorder that happens because of mutation of gene carrying X Chromosomes.
We all carry a few abnormal genes in all of us.
When both parents have nearly the same set of abnormal genes, it automatically increases the probability of risk for children of such couples to be born with any kind of genetic disorder.
Aarskog syndrome is no exception.
One fifth of people, who are affected with this problem, is due to a gene called FDG1 which gets mutated and results in children born with peculiarly odd body parts.
Like any other genetic disease this one is also caused by combination of abnormal genes in father and mother.
The syndrome causes changes in the shape and size of certain bones and cartilage in the body.
As a result of this, it often shows in the form of;
- Short heighten kids
- Kids with cleft lip
- Odd shape and size skeleton
- Genitals, muscles, face, fingers, toes etc.
Mental and sexual maturation and development is also a problem in such people.
Children grow very slowly until they get closer to puberty and in such cases puberty is also delayed.
When it finally arrives it arrives all at once in a spurt.
The person suffering from this syndrome has more chances of suffering Hypermetropia.
What is The Life Expectancy Of People With Aarskog Syndrome?
Their life expectancy is normal.
There is very rarely heart related and almost never any genitals related defect or complication in such patients; except over-riding scrotum in select cases.
Problems or complications that may not be such a common feature however they may pop up once in a while in one in hundred patients may include congenital heart problem.
Side-to-side curvature of the spine may be abnormal.
Victim of this syndrome may have…
- Pairs of ribs
- Fingers may seem slightly webbed
- Neck may be short with or without webbing
- Eye abnormalities may include squinted eyes
- Farsightedness
- and some of the eye muscles may be paralysis.
Research shows that individuals who are at a risk of being affected with Aarskog syndrome are male children of mothers who themselves may not suffer from the syndrome.
However they do carry the gene for it.
In other words, this syndrome is passed down from mothers to their male off springs.
Females are spared or at the most suffer in much milder form.
Can we Prevent Aarskog Syndrome?
It is possible to identify and prevent this disorder by doing a genetic test for people whose families have a history of this syndrome, and/or known mutation of the gene.
Aarskog Syndrome symptoms may include one or more of the following signs;
- Extremely short height and disproportionate body shape
- Typically small & round face
- Middle area of the face not developed proportionately
- Broad & short feet and palms
- Short, flattish fingers
- Eyes set far apart
- Slanted eyes & eyelids drooped
- Nose may be small
- Nostrils may be front-facing
- Broad nasal bridge
- Some cases may also have wide groove over the upper part of lip or may have crease beneath the lower part
- Teeth growth interruption or delay
- Some male children on growing up are also seen to suffer from infertility due to this.
However social skills of such people are found to be good.
Diagnostic of Aarskog Syndrome
If any of the above symptoms are visible in an infant there are several tests that the doctors may recommend like, Genetic Test for identifying mutations in the FGDY1 gene & X-rays. The treatments suggested may at the most include re-alignment of teeth if it can help to set the distorted facial features right.
If allowed to go untreated, this syndrome can sometimes lead to cystic changes in the brain; kids with this disorder may find their first year of growth relatively more difficult than normal kids their age; another complication arising out of this problem is that children may grow teeth that are poorly aligned; seizure can also be one of the complications; position of testicle.
For a family that has a history of Aarskog syndrome and the expectant mother or mother or father of such a child suspects that the child is showing signs related to the syndrome which are mentioned below she should consult her family doctor immediately.
It is a rare disorder which is generally noticed because of obvious stunted growth; and parents may not be able to observe it until the child is three years old and in some cases even a little later than that.
