Buttien-Fryns syndrome
Congenital genetic disorder which causes oligodactyly and micrognathia
From Wikipedia, the free encyclopedia
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.[1] The condition has been reported in four patients, two of which were siblings.[2]
Other namesLimb deficiencies distal with micrognathia
SymptomsOligodactyly and micrognathia
FrequencyOnly 4 cases ever recorded
| Buttien-Fryns syndrome | |
|---|---|
| Other names | Limb deficiencies distal with micrognathia |
| |
| Buttien-Fryns syndrome is inherited in an autosomal recessive inheritance | |
| Symptoms | Oligodactyly and micrognathia |
| Frequency | Only 4 cases ever recorded |
Symptoms and signs
Oligodactyly and micrognathia are the most well known symptoms of the disease. Other symptoms include:[3]
- 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.[4] This gene is also associated with other conditions such as split hand.[1] The condition is inherited in an autosomal recessive manner.[3]
