autosomal dominant Aarskog syndrome

Autosomal Dominant Aarskog Syndrome

Aarskog syndrome, also known as faciogenital dysplasia, is a rare genetic disorder that affects the development of various parts of the body. The autosomal dominant form of this condition is characterized by:

• Short stature: Individuals with autosomal dominant Aarskog syndrome often have short stature, which can range from mild to severe.
• Facial anomalies: Distinctive facial features include a round face, hypertelorism (increased distance between the eyes), and a short nose.
• Limb abnormalities: Short fingers and hands (brachydactyly) are common in individuals with autosomal dominant Aarskog syndrome. Flat feet can also occur.
• Genital anomalies: Males may have a shawl scrotum, which is a condition where the scrotum appears to be higher than normal.

Inheritance Pattern

Autosomal dominant Aarskog syndrome is inherited in an autosomal dominant pattern, meaning that only one copy of the altered gene in each cell is sufficient to cause the disorder. This means that if one parent has the condition, there is a 50% chance that each child will inherit the mutated gene.

Prevalence

The exact prevalence of autosomal dominant Aarskog syndrome is unknown, but it is estimated to be around 1 in 25,000 individuals.

References:

• [3] Evidence suggests that Aarskog-Scott syndrome is inherited in an autosomal dominant or autosomal recessive pattern in some families, although the genetic cause of these cases is unknown.
• [5] Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier et al., 1983).
• [9] Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), ...
• [10] Aarskog-Scott syndrome Description 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 ... In autosomal dominant inheritance, one copy of the altered gene in each cell is sufficient to cause the disorder.

Aarskog syndrome, also known as Faciodigitogenital syndrome, primarily affects males. The condition is characterized by a set of facial, skeletal, and genital abnormalities.

• Facial features may include:
  • Wide-set eyes (hypertelorism)
  • Short nose with a depressed bridge
  • Prominent forehead
  • Broad nasal bridge
  • Ocular anomalies [6]
• Skeletal abnormalities may include:
  • Short stature
  • Decreased bone age
  • Craniofacial anomalies
  • Pectus excavatum (sunken chest)
  • Short neck with or without webbing [9]
• Genital abnormalities may include:
  • Shawl scrotum
  • Hypospadias
  • Umbilical hernia

These symptoms are typically inherited in an autosomal dominant pattern, meaning that one copy of the mutated gene is sufficient to cause the disorder. People affected by Aarskog syndrome have a 50% chance of passing on the mutated gene to their biological child [2].

References: [1] - Signs & Symptoms [2] - Autosomal means the gene involved is located on one of the numbered chromosomes. [9] - GROWTH Other. - Failure to thrive · HEAD & NECK Neck. - Short neck with or without webbing · CHEST. Ribs Sternum Clavicles & Scapulae. - Pectus excavatum ...

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal dominant Aarskog syndrome:

• Genetic testing: Genetic counseling and testing can help identify the FGD1 gene variants associated with autosomal dominant Aarskog syndrome. This can involve analyzing DNA samples from affected individuals or their family members to confirm the presence of the genetic mutation [9].
• Physical examination: A thorough physical examination by a specialist, such as a pediatrician or medical geneticist, can help identify characteristic features of the condition, including short stature, facial abnormalities, and limb and genital anomalies [3][12].
• Imaging studies: Imaging tests like X-rays, CT scans, or MRI may be ordered to evaluate skeletal abnormalities, such as those affecting the hands and feet [11].
• Other diagnostic procedures: Depending on the specific symptoms and findings, other diagnostic procedures may be recommended by a healthcare provider, such as blood tests or specialized imaging studies.

It's essential to note that genetic counseling is crucial in this case, as autosomal dominant Aarskog syndrome can have implications for family members who may also carry the FGD1 gene variant [2].

References:

[9] - The use of a number sign (#) with this entry indicates that Aarskog-Scott syndrome (AAS) can be caused by mutation in the FGD1 gene on chromosome Xp11.

[3] - Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb, and genital abnormalities.

[12] - Teebi tiered criteria for differential diagnosis of Aarskog-Scott Syndrome [12,17].

Please note that the above information is based on the provided context and may not be an exhaustive list of diagnostic tests. It's always best to consult with a qualified healthcare professional for accurate and personalized advice.

Based on the provided context, it appears that there are limited treatment options available for autosomal dominant Aarskog syndrome.

• Growth Hormone Therapy: Preliminary results suggest that growth hormone therapy may be beneficial in treating individuals with Aarskog syndrome (Source: [6]). However, further research is needed to confirm its effectiveness.
• Supportive Therapy: Supportive therapy is necessary if the 16p13.11 microduplication itself involves a certain clinical relevance (Source: [6]). This implies that treatment may be focused on managing specific symptoms or complications associated with the condition.

It's essential to note that there is no curative treatment for Aarskog syndrome, and genetic counseling is crucial in investigating patient family history due to the possibility of autosomal dominant and autosomal recessive transmissions (Source: [3]).

In summary, while some studies suggest potential benefits from growth hormone therapy and supportive care, more research is needed to establish effective treatment options for autosomal dominant Aarskog syndrome.

Based on the provided context, differential diagnoses for autosomal dominant Aarskog syndrome include:

• Aarskog-Scott syndrome (AAS): This is a rare genetic disorder that presents with facial, limb, and genital anomalies. It is also known as facio-genital dysplasia or faciodigitogenital syndrome.
• SHORT syndrome: This is another rare genetic disorder characterized by short stature, hypertriglyceridemia, insulin resistance, and other developmental complications.
• Pseudohypoparathyroidism: A rare genetic disorder that affects the parathyroid glands, leading to abnormal calcium levels in the blood.
• Robinow syndrome: A rare genetic disorder characterized by short stature, facial anomalies, and skeletal abnormalities.

These differential diagnoses are mentioned in search results [12] and [13], which highlight the importance of considering multiple conditions when diagnosing autosomal dominant Aarskog syndrome. The FGD1 gene mutations associated with AAS may also be relevant to these differential diagnoses [15].

It's worth noting that the spectrum of genotype-phenotype correlations in AAS is unclear, making it essential to consider various differential diagnoses and genetic factors when evaluating patients with this condition.

References: [12] Teebi tiered criteria for differential diagnosis of Aarskog-Scott Syndrome [13]