Which are the symptoms of Aarskog-Scott Syndrome?

Aarskog-Scott Syndrome, also known as faciogenital dysplasia or facial-digital-genital syndrome, is a rare genetic disorder that primarily affects males. It is characterized by a distinct set of physical features and developmental abnormalities. While the severity of symptoms can vary, individuals with Aarskog-Scott Syndrome typically exhibit a combination of the following:

Facial Features:

• Wide-set eyes: The eyes may be spaced farther apart than usual.


• Downward-slanting eyelid folds: The skin on the upper eyelids may droop and have a downward slant.


• Short nose: The nose may appear flattened or have a broad bridge.


• Underdeveloped midface: The middle part of the face, including the cheeks, may be less developed.


• Wide, prominent forehead: The forehead may be wider and more prominent than average.


• Epicanthal folds: Some individuals may have folds of skin that cover the inner corners of the eyes.


• Small, widely spaced teeth: The teeth may be smaller and spaced farther apart.

Genital Abnormalities:

• Undescended testicles: The testicles may not descend into the scrotum properly.


• Hypospadias: The opening of the urethra may be located on the underside of the penis instead of the tip.

Skeletal and Limb Abnormalities:

• Short stature: Individuals with Aarskog-Scott Syndrome tend to be shorter than average.


• Abnormal curvature of the spine: Some individuals may have scoliosis or other spinal abnormalities.


• Joint abnormalities: Joint hypermobility or stiffness may be present.


• Brachydactyly: The fingers and toes may be shorter and stubbier than usual.


• Webbed fingers or toes: Some individuals may have partial fusion of the skin between digits.

Other Features:

• Intellectual disability: While not always present, some individuals may have mild to moderate intellectual impairment.


• Behavioral issues: Attention deficit hyperactivity disorder (ADHD) and other behavioral problems may occur.


• Delayed development: Motor skills and speech development may be delayed in affected individuals.


• Cardiac abnormalities: In some cases, heart defects or murmurs may be present.


• Umbilical hernia: A small bulge near the belly button may be observed.

It is important to note that not all individuals with Aarskog-Scott Syndrome will exhibit every symptom mentioned above. The severity and combination of symptoms can vary widely between individuals. Therefore, a comprehensive evaluation by a medical professional is necessary for an accurate diagnosis.