Fraser syndrome 3

Description

Fraser Syndrome: A Rare Genetic Disorder

Fraser syndrome, also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome, is a rare autosomal recessive congenital disorder [5]. It is characterized by several developmental anomalies that occur early in prenatal development [3].

Key Features:

  • Cryptophthalmos: A condition where the eyes are completely covered by skin and usually malformed [1].
  • Cutaneous syndactyly: Fusion of the skin between the fingers and toes [2].
  • Abnormalities of the genitalia and urinary tract: These can include renal agenesis, obstructive uropathy, or other genitourinary anomalies [4].

Inheritance Pattern: Fraser syndrome is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4].

Diagnosis and Treatment: While there is currently no cure for Fraser syndrome, surgery may be available to correct some malformations associated with this disorder, depending on their severity [4]. Diagnosis is based on the major and minor criteria established by van Haelst et al. in 2007 [7].

References:

[1] Description of Fraser syndrome (context result 1) [2] Cutaneous syndactyly (context result 2) [3] Fraser syndrome as a rare genetic disorder (context result 3) [4] Inheritance pattern and treatment options (context result 4) [5] Fraser syndrome as an autosomal recessive congenital disorder (context result 5) [7] Diagnosis criteria established by van Haelst et al. in 2007 (context result 7)

Additional Characteristics

  • Cryptophthalmos: A condition where the eyes are completely covered by skin and usually malformed
  • Cutaneous syndactyly: Fusion of the skin between the fingers and toes
  • Abnormalities of the genitalia and urinary tract: These can include renal agenesis, obstructive uropathy, or other genitourinary anomalies

Signs and Symptoms

Fraser Syndrome Signs and Symptoms

Fraser syndrome is characterized by multiple physical abnormalities, which can vary in severity from person to person. The most common abnormality associated with this condition is the failure of the eyelids to form properly, known as cryptophthalmos.

  • Cryptophthalmos: This is the most common sign of Fraser syndrome, affecting 93% of affected individuals. Cryptophthalmos can manifest in different ways, including:
    • One or both eyes being completely covered by skin
    • Only one eye being affected
    • The eyelids being partially formed or absent
  • Other signs and symptoms: In addition to cryptophthalmos, Fraser syndrome can also involve other physical abnormalities, such as:
    • Abnormalities of the genitalia (e.g., enlarged clitoris in females or undescended testes in males)
    • Fusion of the skin between the fingers and toes (syndactyly)
    • Abnormalities of the urinary tract
    • Heart malformations or abnormalities of the voicebox (larynx)

These physical abnormalities can occur early in development, and their severity can vary widely among affected individuals. In some cases, Fraser syndrome can be fatal before or shortly after birth, while less severely affected individuals may live into childhood or adulthood.

References: [3] [4] [5]

Additional Symptoms

  • Syndactyly
  • Cryptophthalmos
  • Heart malformations
  • Abnormalities of the genitalia
  • Abnormalities of the urinary tract
  • Abnormalities of the voicebox (larynx)

Diagnostic Tests

Diagnostic Tests for Fraser Syndrome

Fraser syndrome can be diagnosed through various diagnostic tests, including:

  • Genetic testing: This involves analyzing the genes responsible for Fraser syndrome, such as FRAS1, FREM1, and FREM2. Genetic testing can confirm the diagnosis of Fraser syndrome in individuals with a family history of the condition or those who exhibit symptoms consistent with the disorder [9].
  • Imaging studies: Imaging techniques like ultrasonography, amniocentesis, or chorionic villus sampling can identify major malformations associated with Fraser syndrome, such as renal agenesis and limb defects [11].
  • Physical examination: A thorough physical examination by a healthcare provider can help identify the characteristic features of Fraser syndrome, including cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract [13].

Citations:

[9] - Prenatal Diagnosis. Prenatal diagnosis of Fraser Syndrome can be challenging but is possible through advanced imaging techniques and genetic testing. [11] - Ultrasonography can identify major malformations, such as renal agenesis and limb defects. If a familial mutation is known, amniocentesis or chorionic villus sampling can be utilized for genetic ... [13] - Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and ...

Additional Diagnostic Tests

  • Genetic testing
  • Imaging studies
  • Physical examination

Treatment

Differential Diagnosis

Fraser syndrome 3 (FRASRS3) is a genetic disorder caused by mutations in the glutamate receptor-interacting protein 1 (GRIP1) gene, and it can be challenging to diagnose due to its rarity. However, there are several conditions that may present with similar symptoms, making differential diagnosis essential.

Possible Differential Diagnoses:

  • Bilateral renal agenesis: This is a condition where both kidneys fail to develop in the fetus, leading to severe kidney problems.
  • Cryptophthalmos: A rare congenital disorder characterized by the absence or partial development of one or both eyelids.
  • Syndactyly: A condition where two or more fingers are fused together.
  • Ambiguous genitalia: A condition where the external genitals do not appear clearly male or female.

Other Conditions to Consider:

  • Manitoba oculotrichonal syndrome: A rare genetic disorder characterized by eye and hair abnormalities.
  • Fraser-like syndrome: A condition that shares similarities with Fraser syndrome but has distinct differences.
  • Meckel syndrome: A rare genetic disorder characterized by multiple congenital anomalies, including eye, ear, and kidney problems.
  • Syndromic microphthalmia: A condition where one or both eyes are abnormally small.

Key Points to Consider in Differential Diagnosis:

  • The presence of cryptophthalmos, syndactyly, and urogenital defects can help differentiate Fraser syndrome 3 from other conditions.
  • Bilateral renal agenesis is a distinct condition that should be considered separately.
  • Manitoba oculotrichonal syndrome and Fraser-like syndrome may present with similar symptoms but have distinct differences.

References:

  • [1] Fraser syndrome 3 (FRASRS3) is caused by mutations in the GRIP1 gene.
  • [2] Bilateral renal agenesis is a genetic disorder characterized by a failure of the kidneys to develop in a fetus.
  • [5] Manitoba oculotrichonal syndrome was considered as a differential diagnosis for Fraser syndrome 3.
  • [11] Fraser-like syndrome and Meckel syndrome are conditions that may present with similar symptoms but have distinct differences.

Note: The information provided is based on the search results and should not be used for medical diagnosis or treatment. If you suspect a genetic disorder, consult a qualified healthcare professional for proper evaluation and care.

Additional Differential Diagnoses

Additional Information

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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.