| 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 |
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.
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.
Symptoms
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