OROS

OFD1

OFD1, or Oral-Facial-Digital Syndrome 1, is a genetic disorder that primarily affects the development of the oral cavity, facial features, and digits. It is part of a group of disorders known as oral-facial-digital syndromes, which are characterized by malformations of the mouth, face, and fingers or toes. OFD1 is the most common and well-studied type of these syndromes.

Genetics

OFD1 is caused by mutations in the OFD1 gene, which is located on the X chromosome. This gene is responsible for encoding a protein that is involved in the development and function of cilia, which are hair-like structures on the surface of cells that play a crucial role in cell signaling and movement. The disorder is inherited in an X-linked dominant pattern, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder in females, while males with the mutation typically experience more severe symptoms and may not survive to birth.

Clinical Features

Individuals with OFD1 often present with a range of symptoms, including:

• Oral anomalies: These may include cleft lip and/or palate, tongue abnormalities such as lobulated or bifid tongue, and dental anomalies.
• Facial dysmorphisms: Features may include hypertelorism (wide-set eyes), a broad nasal bridge, and micrognathia (small jaw).
• Digital malformations: These can include brachydactyly (short fingers), syndactyly (webbed or fused fingers), and polydactyly (extra fingers or toes).
• Other features: Some individuals may have additional anomalies such as polycystic kidneys, brain malformations, and developmental delays.

Diagnosis

Diagnosis of OFD1 is based on clinical evaluation, family history, and genetic testing to identify mutations in the OFD1 gene. Prenatal diagnosis is possible if the mutation in the family is known.

Management

Management of OFD1 is symptomatic and supportive. It may involve surgical correction of oral and facial anomalies, dental care, and management of any associated complications such as kidney disease. Genetic counseling is recommended for affected families.

Research and Future Directions

Research into OFD1 is ongoing, with studies focusing on understanding the role of the OFD1 protein in ciliary function and development. Advances in genetic and molecular techniques may lead to improved diagnostic methods and potential therapies in the future.

Also see

• Oral-facial-digital syndrome
• Ciliopathy
• X-linked dominant inheritance
• Genetic counseling