What Is Aarskog Syndrome?

Aarskog Syndrome is a rare congenital abnormality that primarily affects males, although it can be present in a less severe form in females. It is inherited in an X-linked dominant manner and is due to mutations, most often in the X chromosome’s FGD1 gene, and is characterized by:

• Stature
• Facial features
• Genitalia
• Bones and muscles

It typically becomes evident at age 3 and remains throughout an individual’s life. There is no known cure.

Key Features

Facial Characteristics

• Eyes that are unusually widely spaced (hypertelorism)
• Drooping eyelids (ptosis)
• Short nose, long philtrum, wide bridge of the nose
• Widow’s peak hairline
• Fleshy, low-set ears
• Teeth problems (such as missing or illegible teeth, problems with enamel)

Skeletal Abnormalities

• Short stature (reduction in height specifically)
• Wide hands/feet, short fingers (brachydactyly)
• Bent little fingers (clinodactyly)
• Joint flexibility
• Flat feet, bulbous toes
• Pigeon chest (pectus excavatum)
• Abnormalities of the spine (such as spina bifida occulta or fusion of the vertebrae)

Genital & Abdominal Malformations (in males)

• Shawl scrotum – where scrotum envelopes penis
• Testes not descending into the proper position (cryptorchidism)
• Cleft or divided scrotum
• Hypospadias – abnormal positioning of the urinary opening on the underside of the penis
• Umbilical or inguinal hernias

Cognitive and Behavioral

• Mild to normal intellect
• Behavioral issues: ADHD, hyperactivity, developmental delay
• Some may have learning problems

Other Possible Issues

• Cleft lip/palate
• Hearing problems
• Vision problems (strabismus, hyperopia)
• Congenital heart defects
• Long-term respiratory tract infections

Cause

Genetic Mutation

Mutations of the gene FGD1 disrupt protein signaling (the Cdc42 pathway), interfering with normal development.

FGD1 germline mutations can be detected in only ~20–22% of cases, indicating the involvement of other genes still to be identified.

Inheritance

X-linked recessive (most common):

• It occurs more often in males.
• Females are generally carriers, at times with milder symptoms.
• Fathers can’t transmit the condition to their sons, but they can transmit the gene to all their daughters (who become carriers)

Other patterns (rare):

• Thought to be either autosomal dominant or autosomal recessive in some families

Prevalence

One in 25,000 is extremely rare, but milder cases may go undiscovered.

Confirmed cases of FGD1 gene mutation: Approximately 50 worldwide.

Similar Conditions (Differential Diagnosis)

• Noonan Syndrome
• Robinow Syndrome
• LEOPARD Syndrome

These conditions have overlapping features, including short stature, facial dysmorphia, and genitourinary malformations.

Diagnosis

• Clinical examination and family medical history
• FGD1 mutation genetic testing
• Testing for related genes (e.g., ROR2, WNT5A) if FGD1 is inconclusive

Treatment & Management

A symptom-oriented, multidisciplinary approach should be available with possible:

• Operation: for hernias, cleft lip/palate, undescended testes
• Orthopedic support: for skeletal deformities
• Speech therapy
• Vision and hearing care
• Counseling and other support services
• Educational interventions

Outlook

A lifelong condition with varying degrees of severity.

Most people have near-normal or normal lifestyles, particularly when they are diagnosed early and have received proper care.

There is no cure, but symptoms can be well-managed.

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