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What is Aarskog Syndrome – Symptoms, Cause, Diagnosis and Treatment

When there are abnormalities in the genes and chromosomes at the time of birth, the new-born develops genetic illness. One such rare disorder with characteristic facial abnormalities, short stature, genital and skeletal anomalies is Aarskog syndrome. The sons of women suffering from this condition are 50 percent at risk of developing it.

The daughters stand equal chances of further passing on the disorder to the next generation. Mutation in the gene FGD1 gene is responsible for this genetic disorder.

Aarskog's Syndrome

Symptoms of Aarskog Syndrome:

  • Mild to moderate stature which becomes apparent in the first three years of birth
  • Delayed onset of puberty
  • Attention deficit
  • Hyperactivity
  • Mental deficiency of slight to moderate range
  • Social performance unaffected
  • Distinct point in the hair line at the center of the forehead – Widow’s peak
  • Rounded face
  • Droopy eyelids – blepharoptosis
  • Wide-set eyes – hypertelorism
  • Small nose with the tip of the nostril in forward direction
  • Downslating eye slits – Palpebral fissures
  • Delayed eruption of teeth
  • Mid-portion of the face is underdeveloped –maxilla
  • Lower lip having a crease below it
  • Upper lip having a wide groove above it – Philtrum
  • Slight fold in the upper portion of the ears
  • Short fingers and toes – brachyductyly
  • Fifth finger is in-curved – clinoductyly
  • Broad thumbs and big toes
  • Mild presence of membrane between toes and fingers
  • Single transverse crease in palm
  • Webbing of neck size
  • Short neck
  • Protruding navel
  • Protrusion of abdominal cavity
  • Deformity in the anterior portion of the chest wall present from birth – Pectus Excavatum
  • Undescended testicles
  • A condition where the scrotum surrounds the penis – Shawl scrotum
  • Problems with the structure of the heart
  • Low self esteem
  • Problems with fertility in men
  • Failure to thrive in infants
  • Accumulation of fluids around the tissues in the body

Diagnosis of Aarskog-Scott Syndrome:
Genetic testing can reveal the chances of mutation in FGDY1 gene. But, this can happen accidently. Normally, pregnant women are unaware of any undesirable conditions in their baby prior to the delivery. Possibility of the diagnosis of this syndrome might occur during routine health checkups of pregnancy phase.

After the birth of a child with this genetic disorder, the parents and the loved ones might have to undergo genetic counseling. It is because some of the features of this disease are similar to Fetal alcohol syndrome.

Treatment of Aarskog Syndrome:
Unfortunately, tests on growth hormone have failed to treat the short stature condition. Some of the complications can be removed by surgery. Orthodontic treatment can address abnormalities in the face.

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