Oral-facial-digital syndrome

Oral-facial-digital syndrome (OFDS) refers to a group of related conditions that affect the development of the oral cavity, facial features, and digits. These syndromes are characterized by abnormalities in the structure and function of the mouth, face, and fingers or toes. There are several types of OFDS, each caused by different genetic mutations.

Types

There are multiple types of oral-facial-digital syndrome, including:

• Orofaciodigital syndrome type 1 (OFD1)
• Orofaciodigital syndrome type 2 (OFD2)
• Orofaciodigital syndrome type 3 (OFD3)
• Orofaciodigital syndrome type 4 (OFD4)
• Orofaciodigital syndrome type 5 (OFD5)
• Orofaciodigital syndrome type 6 (OFD6)
• Orofaciodigital syndrome type 7 (OFD7)
• Orofaciodigital syndrome type 8 (OFD8)
• Orofaciodigital syndrome type 9 (OFD9)
• Orofaciodigital syndrome type 10 (OFD10)
• Orofaciodigital syndrome type 11 (OFD11)
• Orofaciodigital syndrome type 12 (OFD12)
• Orofaciodigital syndrome type 13 (OFD13)
• Orofaciodigital syndrome type 14 (OFD14)

Symptoms

The symptoms of OFDS can vary widely depending on the specific type but generally include:

• Abnormalities of the oral cavity such as cleft palate, tongue abnormalities, and dental issues
• Distinctive facial features including wide-set eyes, a broad nose, and facial asymmetry
• Malformations of the digits such as extra fingers or toes (polydactyly), webbed fingers or toes (syndactyly), and shortened digits (brachydactyly)

Causes

Oral-facial-digital syndromes are caused by mutations in various genes. These mutations can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of OFDS.

Diagnosis

Diagnosis of OFDS is based on clinical evaluation and genetic testing. A detailed physical examination and family history are essential for identifying the specific type of OFDS. Genetic testing can confirm the diagnosis by identifying the causative mutation.

Treatment

There is no cure for OFDS, and treatment is focused on managing the symptoms. This may include:

• Surgical correction of oral and facial abnormalities
• Orthodontic treatment for dental issues
• Physical therapy for digit malformations
• Supportive care and monitoring for associated health issues

Prognosis

The prognosis for individuals with OFDS varies depending on the type and severity of the condition. Some individuals may have mild symptoms and lead relatively normal lives, while others may have significant health challenges.

Related Pages

• Orofaciodigital syndrome type 1
• Orofaciodigital syndrome type 2
• Polydactyly
• Syndactyly
• Brachydactyly
• Cleft palate
• Genetic mutation
• Autosomal dominant
• Autosomal recessive
• X-linked