Aarskog syndrome is a rare genetic disorder primarily affecting males, characterized by developmental issues in the head, face, hands, feet, and genitals, caused by mutations in the fgd1 gene linked to the X chromosome. Symptoms include delayed sexual maturity, cognitive challenges, and distinctive physical features, while diagnosis is based on clinical evaluation and family history. There is no permanent cure; treatment focuses on improving quality of life through surgeries, hormone therapy, and educational support.

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