Orofaciodigital syndrome

Orofaciodigital syndrome (pronunciation: /ˌɔːroʊˌfeɪʃioʊˈdɪdʒɪtəl/), also known as OFD syndrome, is a group of rare genetic disorders affecting the development of the oral cavity, facial features, and digits (fingers and toes).

Etymology

The term "orofaciodigital" is derived from Latin roots: "oro" meaning mouth, "facio" meaning face, and "digital" referring to the digits.

Classification

There are at least 13 recognized types of orofaciodigital syndrome, each with its unique genetic cause and symptom profile. The most common types include Orofaciodigital syndrome I, Orofaciodigital syndrome II, and Orofaciodigital syndrome IV.

Symptoms

Common symptoms of orofaciodigital syndrome include abnormalities in the oral cavity such as cleft palate, abnormal tooth shape or number, and tongue abnormalities. Facial features may include a broad nose, wide-set eyes, and low-set ears. Digital abnormalities often involve the presence of extra fingers or toes (polydactyly) or webbing between the fingers or toes (syndactyly).

Causes

Orofaciodigital syndrome is caused by mutations in various genes. The specific gene involved determines the type of orofaciodigital syndrome a person has. These mutations are usually inherited in an autosomal dominant or X-linked recessive manner.

Diagnosis

Diagnosis of orofaciodigital syndrome is based on clinical examination, genetic testing, and imaging studies such as X-ray or MRI.

Treatment

Treatment for orofaciodigital syndrome is symptomatic and supportive, often involving a team of specialists. This may include surgery to correct oral, facial, or digital abnormalities, as well as speech therapy, physical therapy, and other supportive treatments.

External links

Medical encyclopedia article on Orofaciodigital syndrome
Wikipedia's article - Orofaciodigital syndrome

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Orofaciodigital syndrome