Oral-facial-digital syndrome
Oral-facial-digital syndrome
Oral-facial-digital syndrome (pronounced: /ˈɔːrəl ˈfeɪʃəl ˈdɪdʒɪtəl sɪnˈdroʊm/) is a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).
Etymology
The term "Oral-facial-digital syndrome" is derived from the Latin words "Oralis" (pertaining to the mouth), "Facialis" (pertaining to the face), and "Digitalis" (pertaining to the fingers or toes). The term "syndrome" is derived from the Greek word "syndromē", which means "concurrence of symptoms, concourse of people".
Symptoms
People with Oral-facial-digital syndrome may have abnormal development of the oral cavity, including cleft lip and cleft palate, tongue abnormalities, and missing or extra teeth. Facial features can include a broad nose, wide-set eyes, and low-set ears. Digits may be fused together (syndactyly), or there may be extra digits (polydactyly).
Types
There are at least 13 different types of Oral-facial-digital syndrome, each with its own specific symptoms and severity. These include Oral-facial-digital syndrome type I, Oral-facial-digital syndrome type II, and so on.
Causes
Oral-facial-digital syndrome is caused by mutations in various genes. The syndrome is usually inherited in an X-linked dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Treatment
Treatment for Oral-facial-digital syndrome is symptomatic and supportive, and may include physical therapy, speech therapy, and surgery to correct physical abnormalities.
See also
External links
- Medical encyclopedia article on Oral-facial-digital syndrome
- Wikipedia's article - Oral-facial-digital syndrome
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