| 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.
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
 | This section is empty. You can help by adding to it. (October 2024) |
Treatment
| This section is empty. You can help by adding to it. (October 2024) |
References
- ^ 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.
- ^ "Limb deficiencies distal with micrognathia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2023-02-27.
- "Distal limb deficiency with micrognathia syndrome (Concept Id: C4302673) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-02-27.
 | This genetic disorder article is a stub. You can help Misplaced Pages by expanding it. |
 | This genetics article is a stub. You can help Misplaced Pages by expanding it. |