Orocraniodigital Syndrome

Summarized by Plex Health
Last Updated: 05 May 2022

Orocraniodigital syndrome is a very rare inherited disorder characterized by numerous malformations of the head and face and the fingers and toes. Dementia has taken place most of cases. Orocraniodigital syndrome might be inherited as an autosomal recessive genetic trait. In most cases, orocraniodigital syndrome is characterized by slit lip and/or taste buds, malformations of the mouth and/or lips that are noticeable at birth. A slit is an incomplete closure or groove on the inside, upper portion of the mouth or lips, or both. There are a number of varieties of cleft lip and palate malformations. Other primary symptoms of orocraniodigital syndrome might include an abnormally small head, extensively spaced eyes, eyebrows that are slanted upward, and/or abnormalities affecting the thumbs and/or toes. Sometimes, affected babies might also have low birthweight and/or kidneys that are joined at the base. The bone on the thumb side of the arm may be displaced or extraordinarily brief. In the bulk of cases, mental deficiency may also occur.

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