Buttien-Fryns syndrome is a congenital genetic disorder that causes severe oligodactyly and micrognathia. It is caused by a change in the structure of the 10q gene. The condition has been reported in four patients, two of which were siblings.
Symptoms and signs Oligodactyly and micrognathia are the most well known symptoms of the disease. Other symptoms include:
Ankle and foot anomalies Nearsightedness Kidney hypoplasia/insufficiency Maxilla hypoplasia Microretrognathia Wrist and hand anomalies Ear anomalies Ulna anomalies Hearing loss Cryptorchidism High-arched palate Nystagmus Microglossia Microdontia Macrocephaly Cleft palate Other oral anomalies
Cause Buttien-Fryns syndrome is caused by a duplication or triplication of the 10q24 gene. This gene is also associated with other conditions such as split hand. The condition is inherited in an autosomal recessive manner.
Diagnosis
Treatment
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