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Frasier syndrome
ICD-10 Codes
Related ICD-10:
Description
Frasier syndrome is a rare genetic disorder that affects the kidneys and genitalia. It is characterized by kidney disease that begins in early childhood [1]. The condition is also associated with 46,XY complete gonadal dysgenesis, which means that affected individuals have a male genotype but develop female external genitalia [2].
Some of the key features of Frasier syndrome include:
- Streak gonads: Affected individuals may have streak gonads, which are small, non-functional ovaries or testes
- 46,XY female phenotype: Individuals with Frasier syndrome often have a female external appearance despite having a male genotype
- Müllerian structures: Some affected individuals may develop Müllerian structures, such as uterus and fallopian tubes, in addition to their streak gonads [3]
- Later-onset nephropathy: Frasier syndrome is characterized by focal segmental glomerulosclerosis (FSGS), which can lead to kidney disease that begins in early childhood [4]
It's worth noting that Frasier syndrome is a rare condition and more research is needed to fully understand its causes and effects. However, it is clear that the condition has significant implications for affected individuals and their families.
References: [1] Mar 1, 2013 — Frasier syndrome is characterized by kidney disease that begins in early childhood. [2] A rare genetic, syndromic glomerular disorder characterized by the association of progressive glomerular nephropathy and 46,XY complete gonadal dysgenesis [3] Frasier syndrome is characterized by streak gonads, a 46,XY female phenotype with Müllerian structures, and later-onset nephropathy (i.e., focal segmental ... [4] by YC Huang · 2021 · Cited by 4 — Frasier syndrome is a rare disease that affects the kidneys and genitalia. Patients who have Frasier syndrome develop nephrotic syndrome ...
Additional Characteristics
- Frasier syndrome is a rare genetic disorder that affects the kidneys and genitalia.
- Affected individuals may have streak gonads, which are small, non-functional ovaries or testes
- Some affected individuals may develop Müllerian structures, such as uterus and fallopian tubes, in addition to their streak gonads
- Frasier syndrome is characterized by focal segmental glomerulosclerosis (FSGS), which can lead to kidney disease that begins in early childhood
Signs and Symptoms
Frasier syndrome, also known as cryptophthalmos-syndactyly syndrome, is a rare genetic disorder characterized by multiple congenital anomalies.
Common Signs and Symptoms:
- Cryptophthalmos: Failure of the eyelids to form properly, seen in 93% of affected individuals. This can range from one eye being completely covered by skin to only partial fusion.
- Syndactyly: Fusion of the skin between the fingers and toes.
- Genitourinary anomalies: Abnormalities of the genitalia and urinary tract.
Other Possible Symptoms:
- Gonadal dysgenesis, which can result in infertility and female external genitalia with Mullerian structures.
- Wilms tumor is not common in individuals with Frasier syndrome.
These physical deformities are typically present at birth and vary from person to person. The symptoms of Frasier syndrome are caused by mutations in the FRAS1 or FREM2 genes, leading to impaired gene activity regulation and development of the kidneys and reproductive organs.
References:
- [3] Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract.
- [6] Fraser syndrome is a rare genetic disorder with multiple congenital anomalies, such as cryptophthalmos, intersex genitals, and syndactyly. It is caused by mutations in the FRAS1 or FREM2 genes and has autosomal recessive inheritance.
- [9] In addition, the clinical picture ... gonadal dysgenesis results in infertility, female external genitalia and presence of Mullerian structures.
Additional Symptoms
- Syndactyly
- Cryptophthalmos
- Genitourinary anomalies
- Gonadal dysgenesis
Diagnostic Tests
Based on the provided context, it appears that diagnostic tests for Fraser syndrome (FS) are crucial in confirming the condition.
- Karyotype testing is recommended for all individuals with WT1 intron 9 pathogenic variants, which can help identify FS [1].
- Imaging and genetic tests may be required to diagnose FS, including karyotype analysis and imaging of the urogenital tract [6].
- Molecular Genetics Tests, such as sequence analysis of select exons (2), targeted variant analysis (8), and sequence analysis of the entire coding region (52), can also aid in diagnosing FS [7].
Additionally, it is essential to note that blood or DNA samples are typically required for these diagnostic tests. Acceptable specimen types include whole blood and DNA from whole blood only [8].
It's worth mentioning that Fraser syndrome is a rare genetic disorder characterized by several malformations present at birth, which can make diagnosis challenging [1]. However, with the right diagnostic tests, healthcare professionals can accurately diagnose FS.
References: [1] Oct 30, 2020 — Fraser syndrome (FS) is a rare genetic disorder characterized by several malformations that are present at birth. [6] The diagnosis of FS is based on clinical findings, imaging and genetic tests for causative mutations. Karyotype, and imaging of urogenital tract may be required ... [7] Molecular Genetics Tests · Sequence analysis of select exons (2) · Targeted variant analysis (8) · Sequence analysis of the entire coding region (52) · Deletion/ ... [8] Fraser syndrome (FS) is rare and is clinically characterized by ... Note: acceptable specimen types are whole blood and DNA from whole blood only.
Additional Diagnostic Tests
- Molecular Genetics Tests
- Karyotype testing
- Imaging and genetic tests
Treatment
Current Status of Drug Treatment for Frasier Syndrome
Frasier syndrome, a rare genetic disorder, currently lacks a standard treatment approach. The available information suggests that most treatment is symptomatic and supportive, with no established effective treatments (5). This lack of clinical evidence and potential drug-related side effects make it challenging to determine the best course of action (5).
Proposed Therapies
Some studies have proposed the use of cyclosporine as a possible treatment option for Frasier syndrome (6). However, this therapy is still under investigation, and more research is needed to confirm its efficacy.
Challenges in Treatment
The rarity of Frasier syndrome makes it difficult to conduct large-scale clinical trials, which are essential for establishing effective treatments. As a result, most patients with FS reach end-stage renal disease during their lifetime (5).
Need for Further Research
More research is necessary to determine effective treatments for Frasier syndrome. This includes investigating potential therapies like cyclosporine and exploring other treatment options.
References:
- [5] Currently, there is no standard treatment for Frasier syndrome; most treatment is symptomatic and supportive.
- [6] The use of cyclosporine is proposed as a possible treatment option for Frasier syndrome.
Recommended Medications
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Differential Diagnosis
Frasier syndrome, also known as WT1 disorder, has several differential diagnoses that can be considered based on clinical findings and genetic testing.
- Idiopathic steroid-resistant nephrotic syndrome: This is the main differential diagnosis for Frasier syndrome, particularly in cases where the clinical findings suggest a primary renal disease.
- Ablepharon-macrostomia: This rare condition is characterized by a combination of microstomia (small mouth) and ablepharon (absence or underdevelopment of eyelids). It can be considered as a differential diagnosis for Frasier syndrome, especially in cases where there are additional findings such as renal agenesis.
- Fronto-facio-nasal dysplasia: This is another rare condition that affects the development of the face and skull. It can be considered as a differential diagnosis for Frasier syndrome, particularly in cases where there are additional findings such as microphthalmia or syndactyly.
- Fraser-like syndrome: This is a rare condition that shares some similarities with Frasier syndrome, including renal agenesis and genital abnormalities. However, it is characterized by distinct facial features and can be considered as a differential diagnosis for Frasier syndrome.
- Meckel syndrome: Also known as Meckel-Gruber syndrome, this is a rare genetic disorder that affects the development of multiple organs, including the kidneys, liver, and brain. It can be considered as a differential diagnosis for Frasier syndrome, particularly in cases where there are additional findings such as renal agenesis or microphthalmia.
- Syndromic microphthalmia: This is a rare condition characterized by small eyes (microphthalmia) that can occur in isolation or as part of a larger syndrome. It can be considered as a differential diagnosis for Frasier syndrome, particularly in cases where there are additional findings such as renal agenesis.
It's worth noting that the differential diagnoses listed above may not be exhaustive and that further genetic testing and clinical evaluation may be necessary to confirm the diagnosis of Frasier syndrome.
References:
- [3] WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy.
- [5] When the clinical findings suggest ... testing of the hotspot 8-9 exons with adjacent introns can be performed. Karyotype testing is recommended for all individuals with WT1 intron 9 pathogenic variants.
- [6] The differential diagnoses include ablepharon-macrostomia, fronto-facio-nasal dysplasia, Fraser-like syndrome, Meckel syndrome, and syndromic microphthalmia caused by heterozygous mutations of SOX2 gene.
- [10] Patients with Frasier syndrome have mutations in the WT1 gene, whose locus is 11p13 and whose gene product protein functions as a DNA transcription factor.
Additional Differential Diagnoses
- 46,XY sex reversal 4
- 46,XY sex reversal 10
- 46,XY sex reversal 1
- Idiopathic steroid-resistant nephrotic syndrome
- Ablepharon-macrostomia
- Fronto-facio-nasal dysplasia
- N syndrome
- Meckel syndrome 1
- syndromic microphthalmia
Additional Information
- relatedICD
- http://example.org/icd10/G25.82
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- disease_ontology
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- IAO_0000115
- A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene.
- oboInOwl#inSubset
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- OMIM mapping confirmed by DO. [SN].
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- Frasier syndrome
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