OROFACIODIGITAL SYNDROME Meaning and
Definition
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Orofaciodigital syndrome is a rare genetic disorder characterized by a variety of abnormalities affecting the face, mouth, and digits of individuals. The term "orofaciodigital" refers to the involvement of the mouth (oro-), face (facio-), and fingers/toes (digital).
This syndrome presents with a wide range of features, including facial abnormalities such as cleft lip or palate, small mouth, hypertelorism (abnormally wide-set eyes), and nasal defects. Moreover, affected individuals may exhibit oral manifestations like crowded or missing teeth, tongue abnormalities, and a high arched palate. In the digits, orofaciodigital syndrome is associated with malformations, including polydactyly (extra fingers or toes), syndactyly (webbing between digits), or camptodactyly (abnormal bending of the fingers).
In addition to the orofacial and digital anomalies, other organ systems may also be affected. This syndrome commonly involves renal abnormalities, including structural defects or cystic kidney disease. Neurological issues like intellectual disabilities, seizures, or brain malformations can also be present. Furthermore, individuals with orofaciodigital syndrome may experience hearing loss, eye abnormalities, and cardiac defects, among other associated complications.
Given the marked variability in presentation and severity of symptoms, there are several different types of orofaciodigital syndrome, such as Mohr syndrome, Oral-Facial-Digital Syndrome Type 1 (OFD1), and Joubert syndrome. Each subtype has specific features and is associated with different genetic mutations.
Management of orofaciodigital syndrome typically consists of addressing the specific medical issues present in each case. This may involve surgical procedures to correct facial or digital abnormalities, as well as regular monitoring of
Common Misspellings for OROFACIODIGITAL SYNDROME
- irofaciodigital syndrome
- krofaciodigital syndrome
- lrofaciodigital syndrome
- profaciodigital syndrome
- 0rofaciodigital syndrome
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- otofaciodigital syndrome
- o5ofaciodigital syndrome
- o4ofaciodigital syndrome
- orifaciodigital syndrome
- orkfaciodigital syndrome
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- orpfaciodigital syndrome
- or0faciodigital syndrome
- or9faciodigital syndrome
- orodaciodigital syndrome
- orocaciodigital syndrome
Etymology of OROFACIODIGITAL SYNDROME
The term "Orofaciodigital Syndrome" (OFD) is a descriptive medical term that combines three components: Oro, facio, and digital.
- "Oro" derives from the Latin word "os", meaning mouth. It refers to the oral cavity, which includes the lips, teeth, tongue, and jaw.
- "Facio" comes from the Latin word "facies", meaning face. It is used to describe the structural aspects of the face, such as the eyes, nose, and other facial features.
- "Digital" originates from the Latin word "digitus", meaning finger or toe. It refers to the digits of the hands and feet.
The word "syndrome" refers to a collection of signs and symptoms that occur together, indicating a particular condition or disorder.
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