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Aarskog Syndrome


Aarskog syndrome is an inherited disorder. Its incidence is very rare, only 200 cases world wide. It is characterized by short stature, genital abnormalities and some skeletal abnormalities. It is characterize by different facial features, abnormalities in hand and feet and genito urinary abnormalities.

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The cause is due to change in genetics. It is X linked recessive disorder, i.e, it is transferred to 50% males of a carrier woman and 50% daughters are carriers to the carrier woman and normal male. It is due to a defect in the gene located on X chromosome on short arm at 13Th band, i.e, Xq13. Due to defect of this gene some etiology is there in the body the cause of which is still unknown. The gene is known as FGDY1. Mutation in this gene causes Aarskog syndrome.

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Signs & Symptoms

The follwing are the manifestations of the disease:

Musculoskeletal Manifestations

  • Short Stature - may be present prenatally or within the first 1-3 years of life; parallels growth curve until puberty
  • Facial - hypertelorism (there is large gap between the naturally set organs like there can be wide gap between the two orbits of eye) ; small nose with anteverted nares; broad philtrum; broad nasal bridge; abnormally-shaped auricles; widow's peak; ptosis.
    Others include maxillary hypoplasia, hypodontia, retarded dental eruption, orthodontic problems
  • Limbs - brachyclinodactyly; broad feet with bulbous toes; simian crease; syndactyly
    Others: hyper extension of PIP joints & flex-ion of Distal interphalageal joints joint

Genitourinary Manifestations

'Shawl' scrotum (It means that the scrotum covers the penis like Shawl)
Cryptorchidism (Testis will not get descends to the the scrotum from the abdomen)
Inguinal hernia

Ophthalmology Manifestations

Hyperopic astigmatism
Large corneas

Other Manifestations

Delayed puberty
Mild pectus excavatum( sunken chest due to abnormalities in the formation of sternum and the rib cage)
Prominent umbilicus(i.e everted umbilicus)

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No known prevention.

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Surgery Modern Medicine

Treatment includes the following:

  • To treat short stature, we can use growth haormone but it may not be that helpful 
  • Surgery can be done for correction of abnormalities on the face
  • Surgery can be used for crytoorchidism and inguinal hernia. 

Even though these treatments may be beneficial to some extent, but there is no perfect treatment for the disease.

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