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Kahrizi syndrome
ICD-10 Codes
Related ICD-10:
Description
Kahrizi syndrome, also known as Intellectual disability-cataract-coloboma-kyphosis syndrome, is a rare autosomal recessive neurodevelopmental disorder characterized by several distinct physical and intellectual features.
Physical Features:
- Cataracts (clouding of the lens in the eye)
- Coloboma (a hole or defect in one of the structures of the eye)
- Kyphosis (a curvature of the spine, often referred to as a "hunchback")
- Coarse facial features
These physical characteristics are present from birth and can vary in severity.
Intellectual Disability:
Kahrizi syndrome is also associated with intellectual disability, which can range from mild to severe. Individuals with this condition may experience delays in speech and language development, cognitive impairment, and difficulties with learning and memory.
Other Features:
In some cases, individuals with Kahrizi syndrome may also experience other symptoms such as:
- Hearing loss
- Vision problems
- Muscle weakness or spasticity
It's essential to note that the severity and combination of these features can vary significantly among affected individuals.
References: 1. [1] Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. 2. [3] Kahrizi syndrome (KHRZ) is an autosomal-recessive disease that is identified by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. 4. [6] Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features. 7. [7] Intellectual disability, Kahrizi type · Intellectual disability-cataract-coloboma-kyphosis syndrome.
Note: The information provided is based on the search results and may not be an exhaustive list of all possible symptoms or characteristics associated with Kahrizi syndrome.
Additional Characteristics
- Coarse facial features
- Hearing loss
- Intellectual disability
- Vision problems
- Cataracts (clouding of the lens in the eye)
- Coloboma (a hole or defect in one of the structures of the eye)
- Kyphosis (a curvature of the spine, often referred to as a "hunchback")
- Muscle weakness or spasticity
Signs and Symptoms
Clinical Features of Kahrizi Syndrome
Kahrizi syndrome is characterized by a range of clinical features, including:
- Mental Retardation: Severe mental retardation is a hallmark feature of Kahrizi syndrome [1].
- Cataracts: Cataracts with onset in late adolescence are a common feature of the syndrome [2].
- Coloboma: Coloboma of the iris and other ocular structures have been reported in individuals with Kahrizi syndrome [3].
- Kyphosis: Kyphosis, or abnormal curvature of the spine, is also a characteristic feature of the syndrome [4].
- Coarse Facial Features: Coarse facial features, including a bulbous nose, broad nasal bridge, and thick lips, are typical of individuals with Kahrizi syndrome [5].
These clinical features are often accompanied by other symptoms, such as contractures of large joints and intellectual disability. The severity and progression of these symptoms can vary widely among affected individuals.
References:
[1] Kahrizi et al. (2009) reported severe mental retardation in three Iranian siblings with Kahrizi syndrome [2]. [3] Coloboma of the iris was observed in one sibling, while another had bilateral iris coloboma [4]. [5] Coarse facial features were noted in all three siblings [6].
Additional Symptoms
- Coloboma
- Cataracts
- Mental Retardation
- Kyphosis
- Coarse Facial Features
Diagnostic Tests
Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features [2]. Diagnostic tests for Kahrizi syndrome are crucial in confirming the diagnosis.
According to various sources, clinical molecular genetics tests can be used to diagnose Kahrizi syndrome. Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing, and other advanced genetic testing methods can help identify the underlying genetic mutations [1].
In addition, diagnostic tests for related conditions such as congenital disorders of glycosylation (CDG) may also be considered. For instance, SRD5A3 mutations should be ruled out in patients with clinical features suggestive of Kahrizi syndrome, even if CDG testing is negative [7].
It's worth noting that a broad approach to diagnosing heritable conditions can be taken using symptom-based panels, such as the Invitae Leukodystrophy and Genetic Leukoencephaly Panel [9]. This panel may offer a comprehensive diagnostic solution for patients with suspected Kahrizi syndrome.
The following tests may be relevant in the diagnosis of Kahrizi syndrome:
- Sequence analysis of the entire coding region
- Next-Generation (NGS)/Massively parallel sequencing
- CDG testing
- SRD5A3 mutation testing
Please note that these diagnostic tests should only be performed under the guidance of a qualified healthcare professional.
Additional Diagnostic Tests
- Sequence analysis of the entire coding region
- Massively parallel sequencing
- CDG testing
- SRD5A3 mutation testing
Treatment
Current Therapeutic Options for Kahrizi Syndrome
Kahrizi syndrome, also known as Congenital Disorder of Glycosylation Ix (CDG Ix), is a rare genetic disorder that affects the body's ability to produce glycoproteins. While there are no approved treatments specifically designed for Kahrizi syndrome, researchers are exploring various therapeutic options.
- Gene Therapy: Gene therapy and drug repurposing are being explored in pre-clinical studies as potential treatments for CDG Ix (Search Result 3). This approach involves using genes to correct the underlying genetic defect or using existing drugs to target specific pathways involved in the disease.
- Drug Repurposing: Drug repurposing, also known as drug repositioning, is a strategy that involves reusing an existing approved drug for a new indication (Search Result 9). Researchers are investigating whether existing drugs can be repurposed to treat CDG Ix.
Challenges and Future Directions
While these therapeutic options hold promise, there are several challenges to overcome before they can be translated into effective treatments. These include the need for further pre-clinical studies to validate their efficacy and safety in humans.
References:
- Search Result 3: "There are currently no approved treatments for SRD5A3-CDG but gene therapy and drug repurposing are currently being explored in pre-clinical studies."
- Search Result 9: "Drug repurposing, also known as drug repositioning, involves re-using an existing approved drug for a new indication."
Recommended Medications
- Gene Therapy
- drug
💊 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
Kahrizi syndrome, also known as SRD5A3-related disorder, is a rare genetic condition that affects various bodily systems. When considering the differential diagnosis of Kahrizi syndrome, several other conditions should be taken into account.
- CDG Ix subtype: Research has shown that Kahrizi syndrome and this CDG Ix subtype are allelic disorders [1][2][3][4][5][6]. This means that they share a common genetic basis and can be distinguished from one another based on specific characteristics.
- Other SRD5A3-related disorders: The detection of an SRD5A3 mutation in families with Kahrizi syndrome highlights the importance of considering other SRD5A3-related disorders in the differential diagnosis [7].
- Autosomal recessive conditions: Given that Kahrizi syndrome is inherited in an autosomal recessive manner, it's essential to consider other conditions with similar inheritance patterns when making a differential diagnosis.
In terms of specific symptoms and characteristics, Kahrizi syndrome can be distinguished from other conditions based on its unique presentation. However, the differential diagnosis should always take into account the individual patient's clinical features and family history.
References:
[1] Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation sequencing strategies [1]. [2] Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation [2]. [3] Aug 11, 2010 — Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation [3]. [4] Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation sequencing strategies [4]. [5] Oct 22, 2024 — Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation [5]. [6] The results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation sequencing [6]. [7] by A Tzschach · 2010 — In summary, the detection of an SRD5A3 mutation in this family shows that the recently described Kahrizi syndrome (OMIM 612713) and a specific [7].
Additional Differential Diagnoses
- CDG Ix subtype
- Other SRD5A3-related disorders
- Autosomal recessive conditions
Additional Information
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- A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene.
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