Aarskog scott syndrome : Diverse genetic based physical abnormalities

Last Updated on March 14, 2023 by Dr. Saqib Mueed

Aarskog-Scott Syndrome (AAS) is a disease associated with the genetics of the individual, which causes abnormalities in different body parts. This condition is mainly affecting males, and it has very little effect on females.

A person with this disease has very distinctive facial features. Distinctive features involve a minor nose, large space between nose (philtrum) and lips, and largely spaced eyes (hypertelorism).

In childhood, their body stature is mild to moderate short but at adolescence, their body height became normal as the other people of the same age. This is a very rare genetic developmental disorder.

It appears in 1 in 1million population overall. Another report shows the possibility of heart abnormality in affected; the comparable case is being studied with the person affected with FGD1 genetic factor abnormality.

It is an X-associated disease as well as assumed to be transmitted from female to male. Its effects are only visible in males. It occurs due to a mutation in the FGD1 gene. [1]Thieme E-Journals – AIMS Genetics / Abstract (thieme-connect.de)

History of aarskog-scott syndrom

This syndrome was firstly named and described by human geneticist Dagfin Aarskog in 1970. Later an American medical geneticist Charles I. Scott, Jr., independently describe this syndrome in 1971. Strong need to understand the genetic factor abnormality and symptoms the associated male with X-Linked. And because of their discoverer, the diseased condition is named as Aarskog-Scott syndrome.

Symptoms Aarskog-Scott Syndrome

Aarskog-Scott Syndrome affects males (boys). The affected male has distinct characteristics of the face, skeleton, and genital. This condition is mainly affecting males, and it has very little effect on females. 

The affected person may have a round face along with a wide temple. Medical signs may vary from patient to patient (heterogeneity) also within the same family. This condition is mainly affecting males, and it has very little effect on females. 

These individuals also have many abnormal conditions of ear and teeth. Ear abnormal conditions include thickened (flashy) earlobe and low-set ear. Teeth abnormal conditions involve less development of strong outer overlaying of teeth (enamel hypoplasia), delayed eruption of teeth, missing teeth at birth.

A skeletal dysplasia and the affected individual grows with abnormal development of short body stature, widely short feet and hand, short and thick fingers (brachydactyly), and the fifth finger is permanently in bend condition (clinodactyly).

This condition is mainly affecting males, and it has very little effect on females’ abdominal-cavity contents through the inguinal canal (inguinal hernia).

A person with this syndrome may also have spinal problems i.e. incomplete termination of bones of the vertebral column. This condition is mainly affecting males, and it has very little effect on females

Another abnormal condition that helps to recognize this syndrome in male individuals is the unusual folding of skin on the base of the external genitalia, this condition is named “shawl scrotum” and the non-success of one or both of the testes to fall into the scrotum.

The mental abnormality may appear in some individuals, but it is not the actual symptom of the syndrome, the affected male may also show some sort of behavioral abnormalities and mild range of learning difficulties.[2]Aarskog-Scott syndrome: MedlinePlus Genetics

Causes of Aarskog Scott syndrome

Aarskog Scott syndrome is a genetically transmitted disorder, and it occurs due to mutation or abnormality in the FGD1 gene.

This genetic factor is present on the X chromosome and it is transmitted as an X-linked character or symptoms, thus its effects are visible only in males, but in the rear, it is affected or symptom associated with this disorder can also be visible in a female if the female is heterozygous for this gene.

This condition is mainly affecting males, and it has very little effect on females. FGD1 gene mutation or abnormalities have been observed in 22% of males nowadays. It is also said that this disease is a single gene-linked abnormality no other gene yet identified is associated with this mutation.

Aarskog Scott disorder is an X-linked recessive disorder and it will fully be expressed in the homozygous recessive condition. [3]Aarskog-Scott syndrome: phenotypic and genetic heterogeneity (soton.ac.uk)

Diagnosis of Aarskog-Scott Syndrome

An analysis of Aarskog disease may be judged based upon a complete medical estimation, a comprehensive recognition specific.

Molecular genomic analysis for genetic material alterations is obtainable to authenticate the analysis.

Possible Treatment of Aarskog-Scott Syndrome

This disease is only possible when it is diagnosed. The handling of this contamination is pointed for the specific warning sign that is appeared in every affected person.

As this syndrome affects multiple body parts or organs, the team of specialists coordinates together to treat the patient.[4]JCDR – Aarskog-Scott syndrome, Facial anomalies, Genital anomalies

Eye treatment

  1. I) Fixing normal eyes to gain normal vision.
  2. II) Surgically modify ocular muscle tissue so they move in a normal way

Surgical treatment

Surgical treatment is sometimes performed to treat the congenital abnormalities or malfunctioning of characters associated with Aarskog syndrome (irregularly critical).

  • Inguinal hernia treatment
  • Cleft Lip or Cleft Palate Surgery
  • Cleft Lip Surgery
  • Hormonal treatment
  • Nervous treatment

Reviewed by:
Dr. Shafaat Yar Khan  (Ph.D.) 
Medical University of Vienna, Austria 
Present: University of Sargodha, Pakistan

Our reviewers’ details, Click Here

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