Aarskog Syndrome

(Aarskog-Scott Syndrome; Faciodigitogenital Dysplasia or Syndrome; Faciogenital Dysplasia; Shawl Scrotum Syndrome)


Aarskog syndrome is a rare genetic disorder. It causes short stature and specific facial, limb, and genital features.


Aarskog syndrome is an inherited disorder. It is caused by a gene mutation in the faciogenital dysplasia 1 gene (FDG1) on the X chromosome. It is passed from mothers to male children. Female children can be affected by a milder form of the disease.

Risk Factors

Those at risk of inheriting Aarskog syndrome are male children of mothers who carry the gene for it.


The main symptoms of Aarskog syndrome are:
  • Short stature
  • Abnormalities of the head and face, including:
    • Rounded face
    • Wide-set eyes
    • Slightly slanted eyes
    • Drooping eyelids
    • Small nose
    • Front-facing nostrils
    • Underdeveloped mid-portion of the face
    • Wide groove above the upper lip
    • Crease below the lower lip
    • Folding of the top portion of the ear
    • Delay in growing teeth
    • In some cases, cleft lip or palate
Cleft Lip
Cleft lip
Copyright © Nucleus Medical Media, Inc.
Other symptoms may include:
  • A deformed scrotum
  • Undescended testicles
  • Small, wide hands and feet
  • Short fingers and toes
  • Mild webbing of fingers and toes, or crease in palm of hand
  • Mildly sunken chest
  • Navel that sticks out
  • Hyperextension of the knees
  • Intellectual disabilities
Undescended Testicle
si55551452 96472 1
Copyright © Nucleus Medical Media, Inc.

leave comments
Did you like this? Share with your family and friends.
Related Topics:
Current Research From Top Journals

Music May Improve Sleep Quality in Adults with Insomnia
October 2015

Insomnia can make your days miserable and a cure can be hard to find. There are some medications but there is some worry with side effects and the potential for addiction. Music is side effect free and according to this study may help you find sleep.

dot separator
previous editions

CPAP May Help Older Adults with Obstructive Sleep Apnea
September 2015

Water Before Meals May Promote Weight Loss
August 2015

Fecal Transplants Induce Ulcerative Colitis Remission
July 2015

dashed separator


Our Free Newsletter
click here to see all of our uplifting newsletters »