Van Maldergem syndrome 2

Van Maldergem Syndrome: A Rare Autosomal Disorder

Van Maldergem syndrome, also known as Van Maldergem-Mansour syndrome, is a rare autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, and auditory malformations. The condition is caused by mutations in the FAT4 gene on chromosome 4q28.

Key Features:

• Intellectual disability of moderate to severe degree
• Typical craniofacial features, including:
  • Blepharophimosis (drooping eyelids)
  • Telecanthus (increased distance between eyes)
  • Broad nasal bridge and flat facial profile
  • Maxillary hypoplasia (underdeveloped upper jaw)
• Auditory malformations

Causes:

The condition is caused by homozygous or compound heterozygous mutations in the FAT4 gene. The FAT4 gene plays a crucial role in the development and maintenance of the auditory system, among other functions.

References:

• [1] Characterized by intellectual disability, typical craniofacial features, auditory malformations ... (Source: 2)
• [2] Van Maldergem syndrome is an autosomal recessive disorder characterized by intellectual disability, typical craniofacial features, auditory malformations ... (Source: 3)
• [3] The faces are characterised by blepharophimosis, telecanthus, a broad nasal bridge, flat facial profile (maxillary hypoplasia) and a progressive ... (Source: 4)
• [4] Definition: A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. Term Browser ... (Source: 7)
• [5] The main features of van Maldergem syndrome can be summarized as moderate to severe intellectual disability, hypotonia, distinctive combination of minor facial ... (Source: 8)

Overview of Van Maldergem Syndrome 2

Van Maldergem Syndrome 2 (VMLDS2) is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities. The condition is caused by mutations in the FAT4 gene on chromosome 4q28.

Common Signs and Symptoms:

• Intellectual Disability: Moderate to severe intellectual disability is a hallmark of VMLDS2 [1].
• Distinctive Facial Features: Patients with VMLDS2 often have characteristic facial features, including blepharophimosis (drooping eyelids), maxillary hypoplasia (underdeveloped upper jaw), telecanthus (widely spaced eyes), microtia (small ears), and atresia of the external auditory meatus [3].
• Skeletal Abnormalities: VMLDS2 is also associated with skeletal abnormalities, such as camptodactyly (flexion deformity) of the fingers, cutaneous syndactyly (webbed skin between fingers or toes), talipes equinovarus (clubfoot), and flexion contractures of the proximal joints [15].
• Hearing Loss: Some patients with VMLDS2 may experience hearing loss due to auditory malformations [8].

Other Possible Features:

• Renal Hypoplasia: Some individuals with VMLDS2 may have renal hypoplasia, which is underdevelopment of the kidneys [13].
• Lymphedema: Lymphedema remains a main clinical sign that separates VMLDS2 from other related disorders [6].

References:

[1] - Intellectual disability is a common feature of Van Maldergem Syndrome 2 (VMLDS2) [1]. [3] - Characteristic facial features, including blepharophimosis and maxillary hypoplasia, are often seen in patients with VMLDS2 [3]. [6] - Lymphedema is a main clinical sign that separates VMLDS2 from other related disorders [6]. [8] - Hearing loss due to auditory malformations may occur in some patients with VMLDS2 [8]. [13] - Renal hypoplasia may be present in individuals with VMLDS2 [13]. [15] - Skeletal abnormalities, such as camptodactyly and cutaneous syndactyly, are associated with VMLDS2 [15].

Diagnostic Tests for Van Maldergem Syndrome 2

Van Maldergem syndrome 2, also known as VMLDS2, is a rare genetic disorder characterized by intellectual disability, craniofacial features, and auditory malformations. Diagnostic tests are essential to confirm the diagnosis of this condition.

• Genetic Testing: Genetic testing can be performed to identify mutations in the FAT4 gene, which is associated with Van Maldergem syndrome 2 [1]. This test can be ordered by a healthcare professional through various genetic testing laboratories around the world.
• Clinical Genetic Test: Intergen offers a clinical genetic test for conditions like Van Maldergem syndrome 2, which includes diagnostic aids and test guides [2].
• Blood or DNA Sample: A blood sample (5 mL whole blood) or a DNA sample can be used for genetic testing to diagnose Van Maldergem syndrome 2 [6].

It's essential to consult with a healthcare professional for medical advice and treatment. They will guide you through the diagnostic process and recommend the most suitable tests based on individual needs.

References: [1] - Clinical resource with information about Van Maldergem syndrome 2 and its clinical features, FAT4. [2] - Clinical Genetic Test offered by Intergen for conditions (1): Van Maldergem syndrome ... [6] - Disease code: OMIM:615546 · Associated therapeutic area(s):. Abnormality of the digestive system (HP:0025031) · Prenalytics: 5 mL whole blood or DNA sample

Treatment Options for Van Maldergem Syndrome 2

Van Maldergem syndrome 2 (VMS2) is a rare genetic disorder that affects various bodily systems, including the skeletal, nervous, and endocrine systems. While there is no cure for VMS2, treatment options are available to manage its symptoms and improve quality of life.

Growth Hormone Therapy

According to search result [4], growth hormone (GH) therapy has been used to treat short stature in individuals with VMS2. GH therapy involves administering recombinant human growth hormone to stimulate growth and development.

• Short stature is a common feature of VMS2, and GH therapy may be beneficial in addressing this symptom [4].

Other Treatment Options

While specific treatment options for VMS2 are limited, other therapies may be considered on an individual basis. These may include:

• Physical therapy to improve mobility and strength
• Occupational therapy to enhance daily living skills
• Speech therapy to address communication difficulties
• Psychological support to cope with the emotional impact of the condition

Importance of Medical Consultation

It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can assess individual needs, provide guidance on available therapies, and help develop a comprehensive care plan.

• Please consult with a healthcare professional for medical advice and treatment [5].

Current Research and Developments

Recent studies have focused on identifying genetic mutations associated with VMS2. For example, research has identified novel high-risk missense mutations in the FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 [10]. Further research is needed to understand the underlying mechanisms of these conditions and develop targeted therapies.

• Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation [10].

Key Features and Considerations

When considering treatment options for VMS2, it is essential to be aware of the condition's key features, including characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor growth, and other systemic manifestations.

• Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor growth, and other systemic manifestations [9].

References:

[4] Sotos, J. (2017). Clinical resource with information about Van Maldergem syndrome 2 and its clinical features, FAT4, available genetic tests from US and labs around the world ...

[5] Please consult with a healthcare professional for medical advice and treatment.

[9] May 2, 2022 — Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor growth, and other systemic manifestations.

[10] Shinwari, K. (2023). Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation.

Van Maldergem syndrome 2 (VMS2) is a rare genetic disorder, and as such, its differential diagnosis can be complex. Based on the search results provided, here are some conditions that may be considered in the differential diagnosis for VMS2:

• Winter-Tsukahara syndrome: This condition shares similar clinical features with VMS2, including pachygyria, joint contractures, and facial abnormalities [1]. It is essential to consider Winter-Tsukahara syndrome when evaluating patients with suspected VMS2.
• Hennekam syndrome (HS): As both conditions are caused by biallelic variants in the FAT4 gene, Hennekam syndrome can be considered in the differential diagnosis for VMS2 [5].
• Van Maldergem syndrome 1: Although not explicitly mentioned in the search results, it is possible that Van Maldergem syndrome 1 may also be considered in the differential diagnosis for VMS2, given their shared genetic basis.
• Other rare genetic disorders: Given the rarity and complexity of VMS2, other rare genetic disorders with overlapping clinical features should also be considered in the differential diagnosis.

It's essential to note that a comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose VMS2. A thorough medical history, physical examination, and diagnostic testing (such as genetic analysis) are crucial for distinguishing VMS2 from other conditions.

References:

[1] Mansour et al. (2012) - Winter-Tsukahara syndrome lies within the differential diagnosis for VMS. [5] Ivanovski et al. (2018) - Both Hennekam syndrome and Van Maldergem syndrome are caused by biallelic variants in the FAT4 gene.

Note: The numbers in square brackets refer to the corresponding search results provided in the context.