Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. Additionally, some types of cognitive disorders may occasionally be present. Up to now, the FGD1 gene on the X chromosome is the only gene known to be associated with Aarskog syndrome.Belly button that sticks out. Bulge in the groin or scrotum. Delayed sexual maturity. Delayed teeth. Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the inner to outer corner of the eye) Hairline with a "widow's peak" Mildly sunken chest (pectus excavatum) More items...Causes Genetic (X-linked recessive)Most individuals with Aarskog-Scott syndrome have normal intelligence; however, some may have mild learning and behavior problems, and in rare cases, severe intellectual disability has been reported here is no exact cure for Aarskog syndrome; however, medication helps ease the symptoms and other eye, ear, or dental issues. In some cases, surgery is required for inguinal hernia, cleft lip or palate, or undescended testicles condition

1. AARSKOG SYNDROME
D.PRIYA CHANDANA
4TH PHAM.D
VIGNAN PHARMACY COLLEGE

2. DEFINITION
• Aarskog syndrome is a genitic disorder that
affects the development of many parts of the
body , most commonly the head and face ,the
hands and feet , and the gentials and urinary
system [ genitourinary tract ] . The condition
mainly affects males , although females may
have mild feauters may have mild features of
the syndrome

3. • Aarskog syndrome is a very rare disease that
affects a persons height , muscle , skeleton ,
genitals , and appearance . It can be passed
down though families [ inherited]

4. CAUSES
• Aarskog syndrome is a genitic disorder that is
linked to the x chromosome. it affects mainly
males ,but females may have a milder form .
The condition is caused by changes [
mutations] in a gene called “ faciogenital
dysplasia”[FGD1]

5. PATHOPHYSIOLOGY
• Mutations in the FGD1 gene are the only
known genetic cause of aarskog-scott
syndrome.the FGD1 gene provides
instructions for making a protein that turns on
[ activates] another protein called Cde42,
which transmits signals that are important for
various aspects of development before and
after birth

6. • Mutations in the FGD1 gene leads to the
production of the abnormally functioning protein
. The mutations distruot Cde42 signalling .
Leading to the wide variety of abnormalities that
occour in people with aarskog-scott syndrome
• Only about 20% of people with disorder have
identifiable mutations in the FGD1 gene.that
cause of ASS in other affected individual is
unknown

7. OTHER NAMES FOR AAS
• Faciodigitogenital syndrome
• Faciogenital dysplasia
• Aarskog disease
• FGDY
• Scott aarskog syndrome

8. SIGNS AND SYPTOMS
• Belly button that sticks out
• Bulge in the groine or scrotum
• Delayed sexual maturity
• Delayed teeth
• Hairline with a “ widows peak”
• Mildly sunken chest
• Mild to moderate cognitive problems
• Poorly developed middle section of the face

9. • Rounded face
• Scrotum surrounds the penis
• Short fingers and toes with mild webing
• Single crease in the plam of hand
• Small broad hands and feet with short fingers
and curved in fifth fingure
• Small nose with nostrils tipped forward

10. DIAGNOSIS
• A dignosis of aas may be considered based
upon through clinical evaluation ,a detailed
patient and family history ,and the
identification of charecterstics findings

11. TREATMENT
• There is no permenant cure. The treatment
was give to provide to improve quality of life
• Facial and dental irregularities are corrected
by orthodontic treatment
• Surgical procedure are carried out to treat
anomalies like cleft lip or palate and genital
defects
• Growth hormone treatment is given to correct
growth retardation in stunted people

12. • Auxillary treatment are given to persons with
intellectual deficiencies , including educational
assistance
• Genetic counselling may be required for the
parents