Aarskog–Scott syndrome

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(Redirected from Faciodigitogenital syndrome)

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Aarskog–Scott syndrome
X-linked recessive.svg
Synonyms Aarskog syndrome, faciodigitogenital syndrome
Pronounce
Specialty Medical genetics
Symptoms Facial dysmorphism, short stature, genital abnormalities
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation in the FGD1 gene
Risks
Diagnosis Clinical evaluation, genetic testing
Differential diagnosis Noonan syndrome, Turner syndrome, Robinow syndrome
Prevention
Treatment Symptomatic treatment, growth hormone therapy
Medication
Prognosis Generally good with management
Frequency Rare
Deaths


A genetic disorder affecting physical development


Aarskog–Scott syndrome is a rare genetic disorder that affects a person's physical development. It is primarily characterized by distinctive facial features, short stature, and abnormalities of the hands, feet, and genitalia. The syndrome is named after Dagfinn Aarskog, a Norwegian pediatrician, and Charles I. Scott, Jr., an American medical geneticist, who independently described the condition.

Genetics[edit | edit source]

Aarskog–Scott syndrome is inherited in an X-linked recessive pattern. This means that the gene responsible for the syndrome is located on the X chromosome. Males, who have only one X chromosome, are more severely affected by the disorder. Females, with two X chromosomes, may be carriers and can exhibit mild symptoms due to the presence of one normal copy of the gene. The gene associated with Aarskog–Scott syndrome is the FGD1 gene, which provides instructions for making a protein involved in the regulation of the actin cytoskeleton, a structure that helps cells maintain their shape and internal organization.

Clinical Features[edit | edit source]

Individuals with Aarskog–Scott syndrome often present with a range of clinical features:

Facial Features[edit | edit source]

- Hypertelorism: Widely spaced eyes. - Downslanting palpebral fissures: The outer corners of the eyes are lower than the inner corners. - Ptosis: Drooping of the upper eyelids. - Broad nasal bridge: The area between the eyes is wider than usual. - Philtrum: A pronounced groove between the nose and upper lip.

Skeletal Abnormalities[edit | edit source]

- Short stature: Individuals are often shorter than average for their age. - Brachydactyly: Short fingers and toes. - Clinodactyly: Curved fingers, often the fifth finger.

Genital Abnormalities[edit | edit source]

- Shawl scrotum: A condition where the scrotum surrounds the penis like a shawl. - Cryptorchidism: Undescended testicles.

Other Features[edit | edit source]

- Mild intellectual disability: Some individuals may have learning difficulties. - Delayed motor development: Such as late walking.

Diagnosis[edit | edit source]

Diagnosis of Aarskog–Scott syndrome is based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the FGD1 gene.

Management[edit | edit source]

There is no cure for Aarskog–Scott syndrome, and treatment is symptomatic and supportive. Management may include: - Growth hormone therapy: To address short stature. - Surgical intervention: For cryptorchidism or other anatomical abnormalities. - Educational support: For learning difficulties.

Prognosis[edit | edit source]

The prognosis for individuals with Aarskog–Scott syndrome is generally good, with most individuals leading a normal lifespan. However, the degree of physical and intellectual disability can vary widely among affected individuals.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD