syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndactyly-Telcanthus-Anogenital and Renal Malformations Syndrome (STAR Syndrome) is a rare genetic disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes), urogenital malformations, and anal atresia.

Key Features:

• Toe Syndactyly: Webbed or conjoined fingers or toes, with a particular emphasis on the toes.
• Facial Dysmorphism: Abnormal facial features, including telecanthus (abnormal distance between the eyes).
• Urogenital Malformations: Abnormalities in the urinary and genital systems.
• Anal Atresia: A congenital defect of the anus.

Causes:

The STAR syndrome is caused by mutations in the FAM58A gene, which is located on the X chromosome. This gene encodes a protein of unknown function.

Prevalence:

Only around ten cases have been reported so far, making this syndrome extremely rare.

References:

• [1] Syndrome with the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations and anal atresia. Around ten cases have been reported so far.
• [2] Syndactyly-telecanthus-anogenital and renal malformations syndrome (STAR syndrome) is a very rare syndrome that affects many parts of the body.
• [4] Description. This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) ...
• [7] Description. This syndrome is characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) ...

Note: The information provided above is based on the search results and may not be an exhaustive list of all features and causes of STAR syndrome.

Primary Signs and Symptoms of STAR Syndrome

STAR syndrome, also known as syndactyly-telecanthus-anogenital and renal malformations syndrome, is a rare genetic disorder characterized by the association of several birth defects. The primary signs and symptoms of this syndrome are:

• Syndactyly: Webbed or conjoined fingers or toes, with the toes being particularly affected in this syndrome [1][5]
• Telecanthus: Increased distance between the inner corners of the eyes [3][4][9]
• Anogenital malformations: Abnormal formation of the anus and/or genitals [5][10]
• Renal malformations: Birth defects affecting the kidneys [6]

Additional Signs and Symptoms

In addition to these primary signs and symptoms, individuals with STAR syndrome may also experience:

• Other bone abnormalities
• Hearing loss
• Epilepsy
• Retinal abnormalities
• Syringomyelia (a condition where a fluid-filled cavity forms in the spinal cord)
• Tethered spinal cord
• Various other birth defects [3]

References

[1] - Search result 1: STAR syndrome is characterized by syndactyly, telecanthus, and anogenital malformations. [2] - Not used (no relevant information found in this search result) [3] - Search result 4: Ocular signs include telecanthus and eyelid abnormalities, as well as other birth defects. [4] - Search result 8: Novel retinal findings have been reported in a case of STAR syndrome. [5] - Search result 9: The primary features of the disease are syndactyly, telecanthus, anogenital malformations, and renal malformations. [6] - Search result 10: A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus, urogenital malformations, and anal atresia. [7] - Not used (no relevant information found in this search result) [8] - Not used (no relevant information found in this search result) [9] - Search result 5: STAR syndrome is a very rare syndrome that affects many parts of the body. [10] - Search result 11: The syndrome is caused by mutations in the FAM58A gene, encoding a protein of unknown function.

Diagnostic Tests for Syndactyly-Telecanthus-Anogenital and Renal Malformations Syndrome

Syndactyly-telecanthus-anogenital and renal malformations syndrome (STAR syndrome) is a rare genetic disorder that requires comprehensive diagnostic testing to confirm the diagnosis. The following diagnostic tests are used to diagnose STAR syndrome:

• Clinical Molecular Genetics test: This test involves sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS), and is offered by Intergen Genetic Diagnosis and Research Centre [12].
• WES/WGS gene list: A 27-gene panel that includes assessment of non-coding variants, ideal for patients with congenital malformations of the kidney or renal tubular dysgenesis [8].
• Sequence analysis of the entire coding region: This test is used to identify genetic mutations associated with STAR syndrome.
• Next-Generation (NGS)/Massively parallel sequencing (MPS): This test is used to analyze the genetic material and identify any genetic mutations associated with STAR syndrome.

Laboratories Offering Diagnostic Tests

The following laboratories offer diagnostic tests for STAR syndrome:

• Intergen Genetic Diagnosis and Research Centre [12]
• Blueprint Genetics

Important Considerations

It's essential to note that DNA extracted by a laboratory other than Blueprint Genetics may reduce the sensitivity of the test [13]. Additionally, understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner [10].

References:

[8] - A 27-gene panel that includes assessment of non-coding variants. Is ideal for patients with congenital malformations of the kidney or renal tubular dysgenesis. [10] - Providers on your diagnostic team may have advanced medical training in different body systems or types of diseases, which helps them to provide diagnostic procedures in their area of expertise. [12] - Clinical Molecular Genetics test for Syndactyly-telecanthus-anogenital and renal malformations syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Intergen Genetic Diagnosis and Research Centre. [13] - The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.

Based on the search results, it appears that there is limited information available on the drug treatment of syndactyly-telecanthus-anogenital and renal malformations syndrome (STAR syndrome).

However, according to search result [10], a clinical resource provides information about STAR syndrome and its clinical features, including genetic tests and practice guidelines. This suggests that while specific drug treatments may not be well-documented, there are resources available for diagnosis and management of the condition.

Regarding treatment options, search result [11] mentions that around ten cases have been reported so far, but does not provide information on specific treatments used in these cases.

It's worth noting that search result [6] provides information on the genetic cause of STAR syndrome, which may be relevant for future research into potential drug treatments. However, this is still a relatively rare and poorly understood condition, and more research would be needed to determine effective treatment options.

In summary, while there is limited information available on the specific drug treatment of STAR syndrome, it appears that diagnosis and management resources are available through clinical resources and genetic testing.

• Diagnosis and management resources are available through clinical resources [10].
• Limited information is available on specific treatments used in reported cases [11].
• The genetic cause of STAR syndrome may be relevant for future research into potential drug treatments [6].

Differential Diagnosis of STAR Syndrome

STAR syndrome, also known as syndactyly-telecanthus-anogenital and renal malformations syndrome, is a rare genetic disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, urogenital malformations, and anal atresia. When diagnosing STAR syndrome, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis

• Anorectal Malformations: STAR syndrome is part of the differential diagnosis of females with anorectal malformations [15].
• VACTERL Association: This rare congenital disorder involves vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. While VACTERL association does not specifically include syndactyly or telecanthus, it's essential to consider this condition in the differential diagnosis of STAR syndrome.
• Other Rare Syndromes: Other rare syndromes, such as Bardet-Biedl syndrome, may also present with similar symptoms, including urogenital malformations and anal atresia.

Key Features for Differential Diagnosis

When considering the differential diagnosis of STAR syndrome, it's crucial to look for the following key features:

• Toe Syndactyly: Fusion of two or more digits in the toes
• Telecanthus: Abnormally large distance between the eyes
• Urogenital Malformations: Abnormalities in the urinary and genital systems
• Anal Atresia: Absence or abnormal closure of the anus

By considering these key features and other conditions that may present with similar symptoms, healthcare professionals can accurately diagnose STAR syndrome and provide appropriate treatment and management.