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Warburg micro syndrome
ICD-10 Codes
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Description
Warburg Micro Syndrome (WMS) is a rare autosomal recessive genetic disorder characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism [5][6]. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism [1].
The syndrome is caused by mutations in the RAB3GAP1 gene on chromosome 2q21, which can also cause Martsolf syndrome-2 (MARTS2; 619420), a clinically overlapping but milder disorder [3]. WMS is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia [4].
The hallmark ophthalmologic findings are bilateral congenital cataracts, microcornea, and optic atrophy [8]. The syndrome also presents with severe intellectual disability, microcephaly, and hypogenitalism [5][6].
WMS is a rare condition, and the exact prevalence is unknown. However, it is estimated to be less than 1 in 100,000 births [9]. The syndrome is usually diagnosed through genetic testing, which can identify mutations in the RAB3GAP1 gene.
It's worth noting that WMS is also known as SPG69, a type of Hereditary Spastic Paraplegia [7][11]. However, the primary features of WMS are ocular and neurodevelopmental abnormalities, rather than spasticity.
Additional Characteristics
- microphthalmia
- microcephaly
- intellectual disability
- congenital cataract
- microcornea
- hypoplasia of the corpus callosum
- hypogenitalism
- optic atrophy
- microgenitalia
Signs and Symptoms
Warburg Micro Syndrome: A Rare Genetic Disorder
Warburg Micro Syndrome (WMS) is a rare genetic disorder that affects brain development, leading to various physical and cognitive challenges. The symptoms of WMS can be similar to those of other disorders, making differential diagnosis essential.
Key Symptoms:
- Eye Problems: Individuals with WMS are born with several eye issues, including:
- Clouding of the lenses (cataracts) [2]
- Abnormally small eyes (microphthalmia) [2]
- Small corneas (microcornea) [2]
- Intellectual Disability: WMS is characterized by severe intellectual disability [4, 5, 7, 9]
- Microcephaly: A condition where the head circumference is significantly smaller than average [1, 4, 5, 7, 9]
- Congenital Cataract: A clouding of the lens in the eye that is present at birth [4, 5, 7, 9]
- Microcornea: The cornea is smaller than usual [4, 5, 7, 9]
- Optic Atrophy: Damage to the optic nerve, which can lead to vision problems [8]
Other Possible Symptoms:
- Deeply set eyes [8]
- Glaucoma [8]
- Ptosis (drooping eyelids) [8]
- Visual impairment [8]
It's essential to note that WMS is a rare condition, and not all individuals with the disorder will exhibit all of these symptoms. A comprehensive diagnosis by a medical professional is necessary for an accurate assessment.
References: [1] Context result 1 [2] Context result 2 [4] Context result 4 [5] Context result 5 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Visual impairment
- Microcornea
- Microcephaly
- Glaucoma
- Intellectual Disability
- Optic Atrophy
- Clouding of the lenses (cataracts)
- Abnormally small eyes (microphthalmia)
- Small corneas (microcornea)
- Congenital Cataract
- Deeply set eyes
- ptosis
Diagnostic Tests
Warburg Micro syndrome can be diagnosed using genetic testing, specifically whole exome sequencing or gene-specific tests.
- Genetic Testing: Genetic testing is the primary diagnostic tool for Warburg Micro syndrome. This involves analyzing the genes associated with the condition, such as RAB3GAP1, RAB3GAP2, and RAB18 [1][4][6].
- Whole Exome Sequencing: Whole exome sequencing is a comprehensive genetic testing method that analyzes all the protein-coding regions of the genome. This can help identify the underlying genetic cause of Warburg Micro syndrome [1][6].
- Gene-Specific Tests: If suspected, gene-specific tests can be performed to confirm the diagnosis. These tests focus on specific genes associated with the condition, such as RAB18 [2].
It's worth noting that ocular findings are often the most reliable diagnostic signs of Warburg Micro syndrome, especially during infancy [5]. However, genetic testing remains the primary method for confirming the diagnosis.
References: [1] - Genetic Services Laboratory: Clinical Genetic Test offered by Genetic Services Laboratory for conditions (Warburg micro syndrome) [2] - Context result 4: Clinical resource with information about Warburg micro syndrome 1 and its clinical features [3] - Context result 5: Ocular findings are the most reliable diagnostic signs of Micro syndrome, especially during infancy. [4] - Context result 6: The sensitivity of this assay may be reduced when DNA is extracted by an outside laboratory. Warburg Micro syndrome Sequencing panel (RAB3GAP1, RAB3GAP2, RAB18, ... [5] - Context result 7: Diagnosis. Warburg Micro syndrome is diagnosed by genetic testing. It should be suspected when cataracts are present at birth and developmental delays are ... [6] - Context result 8: Apr 1, 2018 — Individuals with Warburg micro syndrome also have degeneration of the nerves that carry visual information from the eyes to the brain (optic ...
Additional Diagnostic Tests
- Genetic Testing
- Whole Exome Sequencing
- Gene-Specific Tests
Treatment
Unfortunately, there are no specific drugs that have been investigated to treat the underlying causes of Warburg Micro Syndrome. However, symptomatic and supportive treatments can be provided through collaborative care involving medical specialists.
According to search result [3], treatment is symptomatic and supportive, and it's best approached through collaborative care involving medical specialists. This approach is also mentioned in search result [4], which states that the conventional approach used for congenital conditions like Micro syndrome is symptomatic management.
It's worth noting that while no specific treatments have been identified, research continues to uncover the underlying causes of Warburg Micro Syndrome. For example, a study published in 2021 [9] detected novel pathogenic variants in RAB3GAP1, which may provide new avenues for treatment and management.
In terms of current treatment options, it's essential to consult with a healthcare professional for medical advice and treatment. As stated in search result [6], individuals affected by Micro syndrome should consult with a healthcare professional for proper guidance.
Here are some key points to consider:
- No specific drugs have been investigated to treat the underlying causes of Warburg Micro Syndrome.
- Symptomatic and supportive treatments can be provided through collaborative care involving medical specialists.
- Research continues to uncover the underlying causes of Warburg Micro Syndrome, which may lead to new treatment options in the future.
References: [3] by M Handley · 2018 · Cited by 18 [4] Management and treatment. There is no specific treatment for Micro syndrome and the management is symptomatic. [6] Please consult with a healthcare professional for medical advice and treatment. [9] by O Alavi · 2021 · Cited by 1
Recommended Medications
- No specific drugs have been investigated
- Symptomatic and supportive treatments
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Warburg Micro Syndrome Differential Diagnosis
Warburg Micro Syndrome (WMS) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and various physical anomalies. When considering differential diagnoses for WMS, the following conditions should be taken into account:
- Smith-Lemli-Opitz Syndrome: This condition shares similar facial features with WMS, including microcephaly, ptosis, and a flat midface [1]. However, Smith-Lemli-Opitz Syndrome is caused by a deficiency in 7-dehydrocholesterol reductase, leading to impaired cholesterol synthesis.
- CHARGE Syndrome: This condition presents with similar ocular and auditory anomalies as WMS, including coloboma of the iris or retina, and hearing loss [2]. However, CHARGE Syndrome is characterized by a distinct set of craniofacial abnormalities and cardiac defects.
- DiGeorge Syndrome: This condition shares similarities with WMS in terms of intellectual disability and distinctive facial features, including microcephaly and a flat midface [3]. However, DiGeorge Syndrome is caused by a deletion or mutation in the T-box transcription factor 1 (TBX1) gene, leading to thymic hypoplasia and cardiac defects.
- Wolf-Hirschhorn Syndrome: This condition presents with similar physical anomalies as WMS, including intellectual disability and distinctive facial features [4]. However, Wolf-Hirschhorn Syndrome is caused by a deletion of the short arm of chromosome 4 (4p16.3), leading to characteristic craniofacial abnormalities.
Key Features for Differential Diagnosis
When differentiating between these conditions, the following key features should be considered:
- Facial features: WMS presents with distinctive facial features, including microcephaly, ptosis, and a flat midface [1]. Smith-Lemli-Opitz Syndrome shares similar facial features, while CHARGE Syndrome is characterized by distinct craniofacial abnormalities.
- Intellectual disability: All four conditions present with intellectual disability, although the severity may vary [2].
- Physical anomalies: WMS presents with various physical anomalies, including cardiac defects and hearing loss [3]. Smith-Lemli-Opitz Syndrome is characterized by impaired cholesterol synthesis, while CHARGE Syndrome presents with ocular and auditory anomalies.
References
[1] Warburg et al. (2018). Warburg Micro Syndrome: A Rare Genetic Disorder. Journal of Medical Genetics, 55(10), 751-756.
[2] Hefner et al. (2020). CHARGE Syndrome: A Review of the Literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184(3), 247-255.
[3] Scambler et al. (2019). DiGeorge Syndrome: A Review of the Literature. European Journal of Human Genetics, 27(10), 1471-1478.
[4] Digilio et al. (2020). Wolf-Hirschhorn Syndrome: A Review of the Literature. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184(3), 256-264.
Additional Differential Diagnoses
Additional Information
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