Oral facial digital syndrome type 3

Oral-facial-digital syndrome type 3 (OFD3), also known as Sugarman syndrome, is a rare genetic disorder characterized by abnormalities in the development of the oral cavity, facial features, and digits. It is one of the many types of Oral-facial-digital syndrome (OFDS), a group of conditions that affect the development of the oral cavity, facial features, and digits.

Symptoms

The symptoms of OFD3 can vary greatly among affected individuals. Common symptoms include cleft lip and palate, hypodontia (missing teeth), micrognathia (small jaw), microcephaly (small head size), and polydactyly (extra fingers or toes). Some individuals may also have intellectual disability and seizures.

Causes

OFD3 is caused by mutations in the FOXF1 gene. This gene provides instructions for making a protein that is involved in the development of the lungs, esophagus, and the formation of the face and digits. Mutations in the FOXF1 gene disrupt the normal development of these structures, leading to the symptoms of OFD3.

Diagnosis

Diagnosis of OFD3 is based on the presence of characteristic symptoms and can be confirmed by genetic testing to identify a mutation in the FOXF1 gene.

Treatment

There is currently no cure for OFD3. Treatment is symptomatic and supportive, and may include surgery to correct physical abnormalities, speech therapy for those with speech difficulties, and special education services for those with intellectual disability.

Prognosis

The prognosis for individuals with OFD3 varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may have life-threatening complications.

See also

• Oral-facial-digital syndrome
• FOXF1
• Cleft lip and palate
• Hypodontia
• Micrognathia
• Microcephaly
• Polydactyly
• Intellectual disability
• Seizures

NIH genetic and rare disease info

• NIH info on Oral facial digital syndrome type 3

Oral facial digital syndrome type 3 is a rare disease.

Oral facial digital syndrome type 3 Resources
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