Van der Woude syndrome 2

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Van der Woude syndrome 2
Specialty	Genetics, Pediatrics
Symptoms	Lip pits, Cleft lip, Cleft palate, dental anomalies
Usual onset	Congenital
Duration	Lifelong
Causes	Genetic (Mutation in the GRHL3 gene)
Risk factors	Genetic predisposition
Diagnostic method	Clinical examination, genetic testing
Differential diagnosis	Popliteal pterygium syndrome, Orofacial cleft
Treatment	Surgical correction, dental care, speech therapy
Frequency	Rare

Van der Woude syndrome 2 (VWS2) is a rare genetic disorder characterized by orofacial anomalies including lip pits, cleft lip, and cleft palate. It is a subtype of Van der Woude syndrome, which is the most common syndromic form of cleft lip and palate. The condition is caused by mutations in the GRHL3 gene and is inherited in an autosomal dominant manner.

Symptoms and Signs

Individuals with Van der Woude syndrome 2 typically present with:

• Lower lip pits, which are unique to this syndrome
• Cleft lip with or without cleft palate
• Dental anomalies such as missing or extra teeth
• Possible speech and feeding difficulties due to cleft palate

Causes

VWS2 is caused by mutations in the GRHL3 gene. This gene plays a crucial role in the development of the face and oral structures during embryonic development. Mutations in this gene disrupt normal development, leading to the features observed in Van der Woude syndrome 2.

Diagnosis

Diagnosis of Van der Woude syndrome 2 is primarily based on clinical examination and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the GRHL3 gene.

Treatment

Treatment for Van der Woude syndrome 2 is multidisciplinary and may include:

• Surgical correction of cleft lip and palate
• Dental care to address dental anomalies
• Speech therapy to improve speech affected by cleft palate

Prognosis

With appropriate treatment, individuals with Van der Woude syndrome 2 can lead healthy lives. Surgical and dental care can significantly improve the quality of life and functionality.

See Also

• Cleft lip and cleft palate
• Genetic disorder
• Pediatric surgery

Van der Woude syndrome 2 Resources
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