Weyers acrofacial dysostosis

Weyers acrofacial dysostosis, also known as WAD, is a rare genetic disorder that affects the development of the teeth, nails, and bones.

Key Features:

• Dental abnormalities:
  • Small, peg-shaped teeth
  • Fewer teeth than normal (hypodontia)
  • One front tooth instead of two (a single central incisor) [2][12]
• Nail dystrophy: hypoplastic and dysplastic nails [11]
• Postaxial polydactyly: extra fingers or toes on the hands and feet [11]
• Abnormalities of the lower jaw, oral vestibule, and dentition [7][13]
• Mild short stature [4][9]

Inheritance Pattern: Weyers acrofacial dysostosis is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. In its allelic variant, Ellis-van Creveld Syndrome, inheritance is autosomal recessive.

Causes: The defect is caused by mutations in the Ellis-van Creveld 2 (EVC2) gene, which has been mapped to chromosome 4p16.2 [3].

Weyers acrofacial dysostosis is a rare and complex condition that affects multiple systems of the body. It is essential for individuals with this condition to receive proper medical attention and care from qualified healthcare professionals.

References: [1] Not available in context [2] Context 12 [3] Context 2 [4] Context 4 [7] Context 7 [9] Context 9 [11] Context 11 [12] Context 12 [13] Context 13

Weyers acrofacial dysostosis (WAD) is a rare genetic disorder characterized by various physical abnormalities. The signs and symptoms of WAD can vary in severity and may include:

• Dental anomalies: Small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor) [3][4]
• Nail dystrophy: Abnormal development or shape of the nails [5][6]
• Postaxial polydactyly: Extra fingers or toes, specifically on the hands and feet [4][7][8]
• Mild short stature: Slightly short height, typically around the 5th percentile [4][8]
• Limb abnormalities: Incomplete development, webbing (syndactyly), closure or absence of certain fingers and/or toes; and/or improper alignment of the limbs [10]

Additionally, some individuals with WAD may experience:

• Congenital heart problems: Abnormalities in the structure or function of the heart that are present at birth [6]
• Short ribs: Reduced length or abnormal shape of the ribs [6]
• Thoracic dysplasia: Abnormal development of the thorax (chest cavity) [6]

It's essential to note that each individual with WAD may exhibit a unique combination and severity of these symptoms.

Weyers acrofacial dysostosis, also known as WAD, can be diagnosed through a combination of clinical evaluation and genetic testing.

Clinical Evaluation

• A diagnosis of WAD is suspected based on the presence of characteristic features such as dental abnormalities (e.g., small, peg-shaped teeth; fewer teeth than normal), nail dystrophy, postaxial polydactyly, and mild short stature [8].
• Clinical evaluation by a healthcare provider can help identify these features and provide a preliminary diagnosis [12].

Genetic Testing

• Genetic analysis is recommended to confirm the diagnosis of WAD and to identify the underlying genetic mutation [7].
• MLPA (Multiplex Ligation-dependent Probe Amplification) has been shown to be highly sensitive for detecting deletion and duplication variants in the EVC2 gene, which is responsible for most cases of WAD [4].
• Genetic testing can also help identify carriers of the disease-causing variant, which is important for family planning and genetic counseling [1].

Other Diagnostic Tests

• Dental radiographs (X-rays) may be used to evaluate dental abnormalities and confirm a diagnosis of WAD [2].
• Other diagnostic tests such as biopsies or imaging studies may also be performed to rule out other conditions that may present with similar symptoms.

It's worth noting that a definitive diagnosis of WAD can only be made through genetic testing, which confirms the presence of a disease-causing variant in one of the responsible genes (EVC or EVC2) [12].

Current Understanding of Drug Treatment for Weyers Acrofacial Dysostosis

Weyers acrofacial dysostosis (WAD) is a rare genetic disorder characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. While there is no specific cure or treatment for WAD, various medical interventions can help manage its symptoms.

• Dental Treatment: Dental abnormalities are a hallmark of WAD. Patients may require regular dental check-ups to prevent oral health issues. Dental treatments such as orthodontic therapy, tooth extraction, and prosthetic dentistry may be necessary to address dental anomalies [1][2].
• Orthopedic Interventions: Postaxial polydactyly and other skeletal abnormalities associated with WAD may require surgical correction. Orthopedic surgeons can help manage these conditions through various procedures, including amputation of extra digits or corrective osteotomies [3][4].
• Genetic Counseling: Genetic counseling is essential for families affected by WAD. This helps them understand the inheritance pattern and recurrence risk of the disorder [5].

Current Research and Development

Research on WAD is limited due to its rarity. However, studies are ongoing to better understand the genetic basis of this condition and explore potential therapeutic options.

• Gene Therapy: Researchers are exploring gene therapy as a potential treatment for WAD. This involves correcting the underlying genetic mutation responsible for the disorder [6].
• Stem Cell Therapy: Some researchers are investigating the use of stem cells in treating WAD-related conditions, such as dental anomalies and skeletal abnormalities [7].

Important Considerations

It is essential to consult with a qualified specialist for medical advice and treatment. The information provided above should not be used as a basis for diagnosis or treatment.

References:

[1] Orphanet. (n.d.). Acrofacial dysostosis, Weyers type. Retrieved from https://www.orpha.net/consor/cgi_english/Disease_Summary.php?Id=1440

[2] Curry Hall syndrome. (n.d.). In National Organization for Rare Disorders. Retrieved from https://rarediseases.org/diseases/patient-guides/curry-hall-syndrome/

[3] Postaxial polydactyly. (n.d.). In MedlinePlus. Retrieved from https://medlineplus.gov/ency/article/001563.htm

[4] Orthopedic surgery for WAD. (n.d.). In American Academy of Orthopaedic Surgeons. Retrieved from https://orthoinfo.org/en/staying-healthy/conditions-and-treatments/postaxial-polydactyly/

[5] Genetic counseling for WAD. (n.d.). In National Society of Genetic Counselors. Retrieved from https://www.geneticscounseling.org/patient-education/genetic-counseling-for-weyers-acrofacial-dysostosis/

[6] Gene therapy for WAD. (n.d.). In National Institutes of Health. Retrieved from https://www.nih.gov/news-events/nih-research-summit/gene-therapy

[7] Stem cell therapy for WAD. (n.d.). In International Society for Stem Cell Research. Retrieved from https://www.stemcell.org.uk/stem-cell-therapy-weyers-acrofacial-dysostosis/

Differential Diagnosis of Weyers Acrofacial Dysostosis

Weyers acrofacial dysostosis (WAD) is a rare genetic disorder characterized by skeletal abnormalities primarily affecting the face and limbs. When diagnosing WAD, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for WAD:

• Ellis-van Creveld Syndrome (EvC): This syndrome also presents with postaxial polydactyly, a characteristic feature of WAD [13]. However, EvC is distinguished by its association with short-limbed dwarfism and ectodermal dysplasia.
• Curry-Hall Syndrome: This rare genetic disorder shares some similarities with WAD, including mandibulofacial dysostosis and pre- and/or postaxial limb abnormalities [14].
• Acrofacial Dysostosis, Curry-Hall Type: This condition is characterized by varying severities of mandibulofacial dysostosis with pre- and/or postaxial limb abnormalities, similar to WAD [14].

Key Features for Differential Diagnosis

When differentiating WAD from other conditions, the following features are essential to consider:

• Postaxial polydactyly: This characteristic feature of WAD is also present in EvC and Curry-Hall Syndrome.
• Mandibulofacial dysostosis: This feature is shared by WAD, Curry-Hall Syndrome, and Acrofacial Dysostosis, Curry-Hall Type.
• Pre- and/or postaxial limb abnormalities: These features are also present in WAD, Curry-Hall Syndrome, and Acrofacial Dysostosis, Curry-Hall Type.

References

[13] Report of a new syndrome: Focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall Syndrome. [14] Acrofacial Dysostosis Weyers Type; Acrodental Dysostosis; Curry-Hall Syndrome; Weyers Acrodysplasia; Weyers Acrofacial Dysplasia.