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Van Maldergem syndrome
ICD-10 Codes
Related ICD-10:
Description
Van Maldergem syndrome, also known as Cerebrofacioarticular syndrome, is a rare genetic disorder characterized by multiple congenital anomalies.
Key Features:
- Intellectual disability: Individuals with Van Maldergem syndrome often have mild to severe intellectual disability [1][3][5][6].
- Craniofacial features: The condition is associated with distinctive craniofacial features, including blepharophimosis, telecanthus, a broad nasal bridge, and a flat facial profile (maxillary hypoplasia) [2].
- Auditory malformations: Some individuals may have auditory malformations, which can affect their hearing ability.
- Hypotonia: Individuals with Van Maldergem syndrome often experience hypotonia, or low muscle tone.
Additional Information:
- The condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder [1][3][5][6].
- Van Maldergem syndrome 1 is another name for this condition, which highlights its genetic nature.
References:
[1] S Mansour · 2012 · Cited by 52 [2] TM Neuhann · 2012 · Cited by 14 [3] [5] [6]
Additional Characteristics
- Hypotonia
- Intellectual disability
- Craniofacial features
- Auditory malformations
Signs and Symptoms
Van Maldergem Syndrome Signs and Symptoms
Van Maldergem syndrome, also known as van Maldergem syndrome or VMS, is a rare genetic disorder characterized by a distinct set of signs and symptoms. The main features of this condition can be summarized as follows:
- Intellectual Disability: Individuals with Van Maldergem syndrome often present with moderate to severe intellectual disability [4].
- Hypotonia: Affected individuals also exhibit hypotonia, which is characterized by low muscle tone or weakness [1].
- Distinctive Craniofacial Features: The condition is associated with a distinctive combination of minor facial abnormalities, including:
- Blepharophimosis (drooping eyelids)
- Dental malocclusion
- Depressed nasal bridge
- Downturned corners of mouth
- Epicanthus (skin fold at the inner corner of the eye)
- Full cheeks
- High anterior hairline [6]
- Neurological Signs: Neurological manifestations include:
- Torsion dystonia (involuntary muscle contractions)
- Increased deep tendon reflexes
- Poor coordination
- Positive Babinski sign (a reflex that indicates upper motor neuron damage)
- Hearing impairment
- Developmental delays [5, 8]
- Other Features: Additional features associated with Van Maldergem syndrome include:
- Lymphedema (swelling of the lymph nodes and surrounding tissues) [7]
- Tracheal anomalies
These signs and symptoms can vary in severity and presentation among affected individuals.
Additional Symptoms
- Hypotonia
- Intellectual Disability
Diagnostic Tests
Diagnostic Tests for Van Maldergem Syndrome
Van Maldergem syndrome, also known as Van Maldergem syndrome 2, is a rare genetic disorder characterized by intellectual disability, craniofacial features, and auditory malformations. Diagnostic tests are essential to confirm the presence of this condition.
- Genetic Analysis: Genetic testing can provide a molecular diagnosis of Van Maldergem syndrome. This test analyzes the DCHS1 gene, which is associated with the disorder [4]. The genetic analysis can be performed in various laboratories around the world, including those in the US [2].
- Recommended Diagnostic Tests: Diagnostic testing for Van Maldergem syndrome is recommended for individuals with a personal and/or family history of this disorder. This ensures that a potential genetic basis for the condition is identified, which can inform prognosis and clinical management [8].
Laboratories Offering Diagnostic Tests
Several laboratories offer diagnostic tests for Van Maldergem syndrome, including:
- Eurofins Biomnis: Provides genetic testing services, including those related to Van Maldergem syndrome [9].
- Other laboratories: Various other laboratories around the world offer diagnostic tests for this condition, as listed in online resources [7].
Prevalence and Diagnostic Considerations
Van Maldergem syndrome is a rare disorder, with an estimated prevalence of less than 1 in 1 million individuals. When considering diagnostic testing, it is essential to consult with a healthcare professional or genetic counselor to determine the most appropriate course of action.
References:
[2] - Provides full coverage of all coding exons of the DCHS1 gene plus 10 bases of flanking noncoding DNA in all available transcripts. [4] - An autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, and other symptoms. [7] - Lists various laboratories offering diagnostic tests for Van Maldergem syndrome. [8] - Genetic analysis to provide a molecular diagnosis of this disorder is recommended for individuals with a personal and/or family history of this disorder. [9] - Eurofins Biomnis provides genetic testing services, including those related to Van Maldergem syndrome.
Additional Diagnostic Tests
- Genetic Analysis
- Recommended Diagnostic Tests
- Laboratories Offering Diagnostic Tests
Treatment
Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations, and other systemic abnormalities [3][4]. While there is no specific treatment for Van Maldergem syndrome, estrogen treatment has been reported to stimulate the development of ducts and nipples in affected individuals [8].
However, it's essential to note that the primary focus of management should be on addressing the associated intellectual disability, craniofacial features, and other systemic abnormalities. This may involve a multidisciplinary approach, including medical, psychological, and educational interventions.
Careful assessment of the airway is required in patients with Van Maldergem syndrome due to midface hypoplasia, which can make difficult airway management [6]. Additionally, patients with this condition may require ongoing clinical trials and research for potential treatments or therapies.
It's crucial to consult with a healthcare professional for medical advice and treatment tailored to the individual needs of each patient. They can provide personalized guidance on managing the associated symptoms and complications of Van Maldergem syndrome.
References: [3] - Oct 14, 2024 — Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability. [4] - Disease Overview. Any van Maldergem syndrome in which the cause of the ... [6] - Careful assessment of the airway is required to rule out difficult airway management because of midface hypoplasia. In general, these patients are not different ... [8] - by J Sotos · 2017 · Cited by 5 — With estrogen treatment, there was a response with development of the ducts and nipples. The cause of the hypoplasia of breasts, mainly ...
Recommended Medications
- estrogen treatment
💊 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
Van Maldergem syndrome (VMS) is a rare genetic disorder, and as such, it can be challenging to diagnose. However, based on the available information, here are some conditions that may be considered in the differential diagnosis for VMS:
- Winter-Tsukahara syndrome: This condition shares some similarities with VMS, including joint contractures and facial abnormalities [1].
- Hennekam syndrome (HS): Biallelic variants in FAT4 have been associated with both VMS and HS, suggesting a possible overlap between the two conditions [5][8].
It's essential to note that differential diagnosis for VMS may also involve other rare genetic disorders, as the clinical features of VMS can be quite variable. A comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose VMS.
References: [1] Mansour et al. (2012) - Winter-Tsukahara syndrome lies within the differential diagnosis for VMS. [5][8] Ivanovski et al. (2017 and 2018) - Biallelic variants in FAT4 are associated with both VMS and HS.
Additional Differential Diagnoses
Additional Information
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- A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
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