Aarskog Syndrome

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Diagnosis
6 Treatment and Management
7 Prognosis
8 Resources
9 References

[edit] Name of Condition

Aarskog-Scott Syndrome

[edit] Definition

Aarskog syndrome is an inherited disease that is typically characterized by short stature, skeletal and genital anomalies, and facial abnormalities.

[edit] Description, Signs and Symptoms

Symptoms that may occur are:

Bulge in the groin or scrotum (inguinal hernia)
Delayed sexual maturation
Hairline with a "widow's peak"
Mildly sunken chest (pectus excavatum)
Mild-to-moderate mental retardation
Short stature
Developmental abnormalities of the face
Genital abnormalities
Short fingers and toes with mild webbing
Single crease in palm of hand
Small, broad hands and feet
Anteverted nostrils
Wide-set eyes with droopy eyelids

[edit] Inheritance

Aarskog-Scott syndrome is transmitted as an X-linked recessive trait. The sons of female carriers have a 50% chance of being affected, while the daughters of female carriers have a 50% chance of being carriers themselves. The syndrome is caused by mutation in the FGDY1 gene located at the p11.21 band on the X chromosome.

[edit] Diagnosis

Genetic testing for mutations on the FFGDY1 gene may be available.

[edit] Treatment and Management

Surgery and orthodontic treatment may be required to correct anomalies and facial abnormalities.

[edit] Prognosis

Some individuals may have mild degrees of mental slowness, but affected children tend to have good social skills. Some males may experience problems with fertility.