Aarskog Syndrome

What Is Aarskog Syndrome?
The Aarskog syndrome or Aarskog–Scott syndrome, also known as the facio-digito-genital syndrome, is a rare genetic disorder. This anomaly is exemplified by short stature in association with a variety of structural abnormalities of the face, distal extremities, and exterior of genitalia.

This syndrome is caused due to a mutation on X-chromosome of the offspring and influences child’s stature, facial features, genitalia, muscles, and bones. It is known to primarily affect males. However, females are likely to develop the milder version of disorder. Symptoms usually become apparent around age 3. Unfortunately, Aarskog syndrome is a lifelong condition that does not have any cure.

What Are The Causes?
Aarskog syndrome is a hereditary disorder caused due to a mutation of an X-linked gene such as the faciogenital dysplasia gene, or FGD1 gene. X-chromosomes are carried from parents to their children. Males have only one X-chromosome, hence male offspring of a carrier woman is likely to have Aarskog syndrome.

Females have two X-chromosomes, so if one of their chromosomes carries the defect, their other chromosome will create a balance. Therefore, females could become carriers or may develop a milder form of the disorder.

Two factors viz; gender and genetic susceptibility can raise the likelihood of having Aarskog syndrome in a child. A male child is more likely to develop Aarskog syndrome as he has only one X-chromosome.

What Are The Main Symptoms?

  • Aarskog syndrome affects four major areas of the anatomy of child: facial features, muscle and bone structure, genitalia, and brain.
  • When a child has Aarskog syndrome, he or she may have distinctive facial features, such as the widow’s peak hairline, forward-slanting nostrils with an unusually broad or small nose, a round face with wide-set and slant eyes and a wide indention above the upper lip. Ears fold down at the top with sagging eyelids.
  • Malformations of muscle and bones are visible through short stature, an indented chest, short toes and fingers, webbed toes and fingers, one crease in the palms of the hands and curled pinky fingers
  • Genital Malformations include a lump in the scrotum or groin, which is also known as a hernia. Delayed sexual maturation and a misshaped scrotum and not descended testicles are some of the signs. Aarskog syndrome can even cause mild to moderate mental deficiencies, such as slow cognitive performance, attention deficit disorder (ADHD/ADD) and delayed cognitive development.

How Is Aarskog Syndrome Diagnosed?
The doctor performs an examination of child’s facial features to determine if he or she has Aarskog syndrome. He ascertains the condition through a physical examination and inquires about the family’s medical history. In case, he suspects Aarskog syndrome, he may call for genetic testing to confirm the presence of mutations on child’s FGD1 gene. Also, X-rays of the head region may help doctor to know the severity of the malformations caused by Aarskog syndrome.

How Is Aarskog Syndrome Treated?
Unfortunately, a cure for Aarskog syndrome does not exist yet. Treatment is mostly confined to rectifying any abnormalities in child’s bones, tissue, and teeth. Surgical treatment may involve procedures, such as orthodontic and dental surgery to repair skewed teeth and abnormal bone structure. Hernia repair surgery to take out a groin or scrotum lump and a testicle surgery to let the testicles to descend.

Apart from this, treatments including supportive assistance for cognitive and developmental delays can be of help. If the child is diagnosed with attention deficit disorder, it may be necessary to seek psychiatric assistance to help manage the problem. A behavioral specialist or counselor can equip parents with coping strategies for raising a special-needs child.

Though, one may not be able to prevent Aarskog syndrome, women can undergo genetic testing to determine if they carry a mutated FGD1 gene. Once genetic testing reveals the presence of mutated gene, a woman can consider the risks while choosing to have children or not to have them.

How Can You Manage Aarskog Syndrome Through Alternative Therapies?
(Since this is a genetic disorder, no direct alternative treatment exists for it. The help of a psychiatrist or behavioral specialist could prove useful.)

Read More:
Alkaptonuria
Nail-Patella Syndrome
Klinefelter Syndrome
Huntington Disease

References:
1. Sepulveda W, Dezerega V, Horvath E et-al. Prenatal sonographic diagnosis of Aarskog syndrome. J Ultrasound Med. 1999;18 (10): 707-10.

2. Taub M B, Stanton A. Aarskog syndrome: a case report and literature review. Optometry. 2008;79 (7): 371-7.

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