Read about aarskog syndrome medical facts: what is the definition of aarskog syndrome, what are the signs and symptoms, medical treatment & how to treat aarskog syndrome, information about the causes, prevalence, testing, probable complications, and related aarskog syndrome diseases.

Definition: What is "Aarskog Syndrome"?


Aarskog syndrome is an inherited disorder that is often characterized by abnormalities of the face, short stature, genital abnormalities & mucoloskeletal anomalies.

Symptoms & Signs

Symptoms of this disorder could include: a mild case (which could also progress as the child ages) of being short in stature. This is often not obvious & can only be noticed once the child reaches the age of 1 to 3 years; a delay on the maturation of sexual characteristics; having a round facial feature; the eyelids appear to be drooping & the eyes are set wide apart; the nose could appear small with the slits tilted forward; a crease could appear below the lips; there could also appear a broad groove right above the lips; the middle part of the face could be underdeveloped; toes & fingers could appear webbed; a delay on tooth eruption; mental deficit (which could range from mild to moderate); a navel that protrudes; testicles that are 'undescended'; palpebral slant; & a chest that could appear sunken (pectus excavatum).

Treatment: How to Treat "Aarskog Syndrome"?

For the abnormalities on the patient's teeth, it is best to consult an orthodontist to correct any problems. If it's the height that has been affected, it has been observed that growth hormones are not effective means to improve the patient's height.


This syndrome is believed to be a genetic disorder that is x-linked recessive. Some studies contradict that it could be a disorder that is x-linked dominant which justifies the many cases of males that are affected by the illness. There are only a few cases of females with this syndrome. This disorder is acquired when a mutation happens to the FGDY1 gene or the faciogenital dysplasia which can be located on the chromosome X.


There is still no known & recorded prevention to this syndrome. Prenatal testing can be done to couples with relatives that are known to have the disorder.


The skeletal defects could easily be revealed by x-ray but if the patient's family would like to pinpoint if it really is a case of Aarskog syndrome, then they had better let the patient undergo genetic testing. This will reveal if the FGDY1 gene has really mutated.

Probable Complications

Severe conditions could develop if this condition is undetected. Seizures & some cysts could possible occur. For those with abnormal testes, surgery could be a good option. Orthodontic treatments are advisable for those with problems on their teeth (especially those with misaligned sets of teeth).

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