| 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.[1] The condition has been reported in four patients, two of which were siblings.[2]
Cause
Buttien-Fryns syndrome is caused by a duplication or triplication of the 10q24 gene.[3] This gene is also associated with other conditions such as split hand.[1] The condition is inherited in an autosomal recessive manner.[4]
Symptoms
Oligodactyly and micrognathia are the most well known symptoms of the disease. Other symptoms include:[4]
- 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
References
- 1 2 Dimitrov, B. I.; de Ravel, T.; Van Driessche, J.; de Die-Smulders, C.; Toutain, A.; Vermeesch, J. R.; Fryns, J. P.; Devriendt, K.; Debeer, P. (2010-02-01). "Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements" (PDF). Journal of Medical Genetics. 47 (2): 103–111. doi:10.1136/jmg.2008.065888. ISSN 0022-2593. PMID 19584065. S2CID 39968814.
- ↑ "Orphanet: Distal limb deficiencies micrognathia syndrome". www.orpha.net. Retrieved 2023-02-27.
- ↑ "Distal limb deficiency with micrognathia syndrome (Concept Id: C4302673) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-02-27.
- 1 2 "Limb deficiencies distal with micrognathia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-02-27.
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