Oral facial digital syndrome

Oral-facial-digital syndrome (OFDS) is a heterogeneous group of rare genetic disorders that affect the development of the oral cavity, facial features, and digits. The syndrome is characterized by malformations and abnormalities in these areas, which can vary greatly in severity and presentation.

Classification

OFDS is classified into thirteen types, each associated with a specific genetic mutation. These include OFD syndrome type I, OFD syndrome type II, and so on up to OFD syndrome type XIII. Each type has distinct clinical features, although there is considerable overlap among them.

Symptoms and Signs

The symptoms of OFDS can vary greatly, but commonly include abnormalities of the oral cavity, such as cleft lip and/or palate, tongue abnormalities, and dental anomalies. Facial features can include a broad nose, wide-set eyes, and low-set ears. Digital anomalies can include polydactyly (extra fingers or toes), syndactyly (fused fingers or toes), and brachydactyly (shortened fingers or toes).

Genetics

OFDS is caused by mutations in various genes, most of which are involved in the development of the primary cilia, a cellular structure that plays a crucial role in cell signaling and development. The syndrome is typically inherited in an X-linked recessive manner, meaning that it is usually seen in females, as they have two X chromosomes and thus a higher chance of inheriting the mutated gene.

Diagnosis

Diagnosis of OFDS is based on clinical examination and genetic testing. The presence of characteristic oral, facial, and digital anomalies can suggest the diagnosis, which can then be confirmed by identifying a mutation in one of the known OFDS genes.

Treatment

There is currently no cure for OFDS, and treatment is symptomatic and supportive. This can include surgery to correct physical abnormalities, speech therapy for those with oral anomalies, and physical therapy for those with digital anomalies.

Prognosis

The prognosis for individuals with OFDS varies depending on the severity of the symptoms and the specific type of OFDS. Some individuals may have a normal lifespan with minimal complications, while others may experience significant health problems and a reduced lifespan.

See Also

• Ciliopathy
• Genetic disorder
• Rare disease

NIH genetic and rare disease info

• NIH info on Oral facial digital syndrome

Oral facial digital syndrome is a rare disease.

Oral facial digital syndrome Resources
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