Oral-facial-digital syndrome, type IV

Oral-facial-digital syndrome, type IV (OFDS IV), also known as Baraitser-Burn syndrome, is a rare genetic disorder that affects the development of the oral cavity, facial features, and digits. This condition is part of a group of diseases known as Oral-facial-digital syndromes (OFDS), which are characterized by a wide range of physical anomalies. OFDS IV is distinguished by its unique combination of symptoms and genetic causes.

Symptoms and Characteristics

The hallmark features of Oral-facial-digital syndrome, type IV include malformations of the face, oral cavity, and digits. Specific symptoms can vary significantly among affected individuals but commonly include:

• Oral anomalies: These may include a cleft lip and/or cleft palate, tongue anomalies such as lingual hamartoma (a benign growth), and additional or missing teeth (hypodontia or polydontia).
• Facial features: Distinctive facial characteristics can include a broad nasal bridge, wide-spaced eyes (hypertelorism), and low-set ears.
• Digital anomalies: Individuals may have extra fingers or toes (polydactyly), fused fingers or toes (syndactyly), or other abnormalities in the hands and feet.

In addition to these core features, some individuals with OFDS IV may experience developmental delays, intellectual disability, and other systemic issues.

Genetics

Oral-facial-digital syndrome, type IV is caused by mutations in specific genes, although the exact genetic mechanism can vary among individuals. Like other types of OFDS, it is inherited in an X-linked dominant pattern. This means the condition is caused by mutations on the X chromosome, and a single copy of the mutated gene can cause the disease in females. Males with the mutation are more severely affected and often do not survive pregnancy.

Diagnosis

Diagnosis of OFDS IV is based on clinical examination and the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations associated with the syndrome. Prenatal diagnosis may be possible for families with a known history of the condition.

Treatment and Management

There is no cure for Oral-facial-digital syndrome, type IV, and treatment is symptomatic and supportive. Management may involve a multidisciplinary team including specialists in genetics, pediatrics, orthopedics, dentistry, and speech therapy, among others. Surgical interventions may be necessary to correct physical anomalies such as cleft lip and palate or digital malformations. Early intervention and supportive therapies can help manage developmental delays and improve quality of life.

See Also

• Cleft lip and palate
• Polydactyly
• Syndactyly
• Oral-facial-digital syndromes

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