Buttien-Fryns syndrome

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.