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Aarskog-Scott syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Aarskog-Scott syndrome

Aarskog-Scott syndrome is a rare genetic disorder that primarily affects the development of the head, face, hands, feet, and genitals in males. It is characterized by distinctive facial features, short stature, and physical abnormalities, and is primarily caused by variants in the FGD1 gene.

Overview and Symptoms

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body, most commonly the head and face, the hands and feet, and the genitals and urinary system (genitourinary tract). This condition mainly affects males, although females may have mild features of the syndrome.

People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes, a small nose, a long area between the nose and mouth, and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up with that of their peers during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (cutaneous syndactyly), and a single crease in the palm of the hand. Affected individuals can also have wide, flat feet with broad, rounded toes. Other abnormalities in people with Aarskog-Scott syndrome include heart defects and a split in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate).

Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis instead of

Frequently Asked Questions

Many males with this syndrome experience infertility due to structural abnormalities in the reproductive system, such as a shawl scrotum, undescended testes, or reduced sperm count. However, fertility varies significantly among individuals. Some men may have normal sperm production, while others may require assisted reproductive technologies like in vitro fertilization to conceive.
The definitive diagnosis is made through genetic testing that identifies pathogenic variants in the FGD1 gene. This is typically done via targeted sequencing or a comprehensive gene panel for skeletal dysplasias. If genetic testing is inconclusive, clinicians may rely on the characteristic clinical features, but genetic confirmation is essential for accurate family counseling and management.
Yes, females can inherit the FGD1 gene variant, but because the condition is X-linked, they are usually carriers with milder symptoms. While males typically display the full range of features, affected females may have subtle facial differences, mild short stature, or minor hand abnormalities, which can sometimes lead to a delayed or missed diagnosis.
shawl scrotum is a condition where the scrotal skin extends over the penis, resembling a shawl. It is a hallmark feature in males with Aarskog-Scott syndrome. While it is primarily a cosmetic issue, it can sometimes be associated with undescended testes or other genitourinary abnormalities. Surgical correction is often recommended for cosmetic reasons or if there are functional concerns, but it is not typically an emergency.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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