Aarskog syndrome

Aarskog syndrome, also known as Aarskog-Scott syndrome, is a rare genetic disorder that affects the development of various parts of the body.

Physical Characteristics

• People with Aarskog syndrome often have distinctive facial features, such as a broad face, short nose, and prominent forehead [1].
• They may experience short stature, with an average height below 5 feet (152 cm) [6].
• The hands and feet are also affected, with broad, short hands and feet being common [12].

Other Affected Areas

• Musculoskeletal abnormalities are a hallmark of Aarskog syndrome, including musculature weakness and skeletal deformities [9].
• Genital irregularities can occur in males, although the severity may vary [3][4].
• Intellectual development may also be affected, with some individuals experiencing minimal intellectual disability [11].

Inheritance

• Aarskog syndrome is an inherited disease that affects males more frequently than females, who often have milder symptoms [1][2][5].
• The condition is linked to the X chromosome and can be passed down through families [4].

Prevalence

• The exact prevalence of Aarskog syndrome is unknown, but it's estimated to occur in less than 100 cases worldwide since its first description in 1970 [8].
• Prevalence estimates suggest that about 1 in 25,000 people may be affected by this condition [8].

Genetic Cause

• About 20% of individuals with Aarskog syndrome have genetic changes in the FGD1 gene [11].
• The cause of the condition in other affected individuals is unknown [11].

Aarskog Syndrome Signs and Symptoms

Aarskog syndrome, also known as Aarskog-Scott syndrome, is a rare genetic disorder that primarily affects males. The condition is characterized by a set of distinctive facial, skeletal, and genital abnormalities.

Common Signs and Symptoms:

• Facial Abnormalities: Affected individuals often have a rounded face with a broad forehead, hypertelorism (widely spaced eyes), downslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and protuberant ears, maxillary hypoplasia, and transverse crease below the lower lip.
• Skeletal Abnormalities: Short stature, brachydactyly (short fingers), curved pinky fingers (fifth finger clinodactyly), and other skeletal anomalies are common in individuals with Aarskog syndrome.
• Genital Abnormalities: Atypical genital formation and development are common signs of the syndrome, including a lump in the scrotum or groin, also known as a hydrocele or hernia.

Other Symptoms:

• Delayed sexual development
• Normal fertility (although delayed)
• Facial marks become less noticeable with age

Inheritance Pattern: Aarskog syndrome is an inherited disease that affects males. The condition is caused by mutations in the FGD1 gene, which is located on the X chromosome. Females can be carriers of the mutated gene and may exhibit mild features of the syndrome.

References:

• [1] Aarskog syndrome primarily affects males, with a characteristic set of facial, skeletal, and genital abnormalities.
• [3] The symptoms vary across patients, but based on frequency, we can classify the signs and symptoms of the syndrome.
• [5] AAS predominantly concerns males, with facial features including widow's peak and hypertelorism, both observed in female carriers.
• [6] Facial features include downslanting palpebral fissures, broad nasal bridge, anteverted nostrils, low-set and protuberant ears, maxillary hypoplasia, and transverse crease below the lower lip.
• [7] People with Aarskog-Scott syndrome often have distinctive facial features, such as hypertelorism, a small nose, a long area between the ...
• [8] Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly).
• [9] Sexual development is normal but may be delayed; fertility has been reported.
• [13] 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).

Diagnostic Tests for Aarskog Syndrome

Aarskog syndrome, also known as Aarskog-Scott syndrome, is a rare genetic disorder characterized by short stature and multiple facial, limb, and genital abnormalities. Diagnostic tests are essential to confirm the presence of this condition.

Available Diagnostic Tests:

• Genetic testing: Genetic testing for mutations in the FGD1 gene can be done to diagnose Aarskog syndrome [1][2]. This test is considered a definitive diagnostic tool.
• X-rays: X-rays may also be performed as part of the diagnostic process to rule out other conditions that may present with similar symptoms [3].
• Physical examination: Clinical diagnosis is based on physical examination and recognition of distinctive clinical hallmarks, such as short stature, facial abnormalities, and limb anomalies [4].

Other Diagnostic Tests:

• Ultrasonography: While not typically used for diagnosing Aarskog syndrome, ultrasonography may be performed in some cases to rule out other conditions that may present with similar symptoms, such as cystic hygroma and vertebral anomalies [5].
• Imaging studies: Imaging studies of the feet, face, and hands may also be done to identify the disease, although this is not a widely used diagnostic tool for Aarskog syndrome [6].

Blood Tests:

• Blood tests: Blood samples can be taken for genetic testing or other laboratory analyses. The required blood sample size is typically two 4ml EDTA tubes with lavender tops [7].

It's essential to consult with a healthcare professional for accurate diagnosis and treatment of Aarskog syndrome.

References:

[1] Exams and Tests. These tests may be done: Genetic testing for mutations in the FGD1 gene; X-rays. Treatment. Moving the teeth may be done to treat some of the... (Search Result 1)

[2] Dec 31, 2023 — Exams and Tests · Genetic testing for mutations in the FGD1 gene · X-rays ... (Search Result 5)

[3] Nov 1, 2021 — Exams and Tests. These tests may be done: Genetic testing for mutations in the FGD1 gene; X-rays. Treatment. Moving the teeth may be done to... (Search Result 4)

[4] Clinical diagnosis is based on physical examination and the recognition of the most distinctive clinical hallmarks. Molecular genetics, based on analysis of the... (Search Result 6)

[5] by A Ahmed · 2016 · Cited by 21 — Cystic hygroma and vertebral anomalies were diagnosed by ultrasonography which are not typical features of Aarskog syndrome. (Search Result 8)

[6] In such cases ultrasound examination of feet, face, and hands is done to identify the disease. Clinically, this is not widely used because the syndrome does... (Search Result 9)

[7] Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request). Test Limitations: All... (Search Result 10)

Differential Diagnoses for Aarskog Syndrome

Aarskog syndrome, a rare genetic disorder, can be challenging to diagnose due to its similarities with other conditions. The following are some differential diagnoses that may be considered:

• SHORT syndrome: This condition is characterized by short stature, hypertriglyceridemia, onychodysplasia (abnormal nail development), and renal anomalies. While it shares some features with Aarskog syndrome, such as short stature, the two conditions have distinct differences.
• Pseudohypoparathyroidism: This rare genetic disorder affects calcium regulation in the body, leading to symptoms like short stature, round face, and intellectual disability. Like Aarskog syndrome, it can present with musculoskeletal anomalies.
• Robinow syndrome: Also known as Robinow's syndrome, this condition is characterized by short stature, facial abnormalities (including a broad nose), genital anomalies, and mild intellectual disability. The similarities between Robinow syndrome and Aarskog syndrome make differential diagnosis essential.

Key differences among the conditions:

• Age of onset: Aarskog syndrome may not become apparent until the child is about three years old,