View source for Biology:Buttien-Fryns syndrome

{{Short description|Congenital genetic disorder which causes oligodactyly and micrognathia}}{{Infobox Disease
| name          = Buttien-Fryns syndrome
| image         = Autosomal recessive - en.svg
| alt           = Autosomal recessive inheritance
| caption       = Buttien-Fryns syndrome is inherited in an autosomal recessive inheritance
| frequency     = Only 4 cases ever recorded
| onset_always  = Congenital
| symptoms      = Oligodactyly and micrognathia
| synonym       = Limb deficiencies distal with micrognathia
}}

'''Buttien-Fryns syndrome''' is a congenital [[Medicine:Genetic disorder|genetic disorder]] that causes severe [[Medicine:Oligodactyly|oligodactyly]] and micrognathia. It is caused by a change in the structure of the 10q [[Biology:Gene|gene]].<ref name=":0">{{Cite journal |last1=Dimitrov |first1=B. I. |last2=de Ravel |first2=T. |last3=Van Driessche |first3=J. |last4=de Die-Smulders |first4=C. |last5=Toutain |first5=A. |last6=Vermeesch |first6=J. R. |last7=Fryns |first7=J. P. |last8=Devriendt |first8=K. |last9=Debeer |first9=P. |date=2010-02-01 |title=Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements |url=https://hal.archives-ouvertes.fr/hal-00552688/file/PEER_stage2_10.1136%252Fjmg.2008.065888.pdf |journal=Journal of Medical Genetics |language=en |volume=47 |issue=2 |pages=103–111 |doi=10.1136/jmg.2008.065888 |pmid=19584065 |s2cid=39968814 |issn=0022-2593}}</ref> The condition has been reported in four patients, two of which were siblings.<ref>{{Cite web |title=Orphanet: Distal limb deficiencies micrognathia syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1307 |access-date=2023-02-27 |website=www.orpha.net}}</ref>

== Cause ==
Buttien-Fryns syndrome is caused by a duplication or triplication of the 10q24 gene.<ref>{{Cite web |title=Distal limb deficiency with micrognathia syndrome (Concept Id: C4302673) - MedGen - NCBI |url=https://www.ncbi.nlm.nih.gov/medgen/928342 |access-date=2023-02-27 |website=www.ncbi.nlm.nih.gov |language=en}}</ref> This gene is also associated with other conditions such as [[Medicine:Ectrodactyly|split hand]].<ref name=":0" /> The condition is inherited in an autosomal recessive manner.<ref name=":1">{{Cite web |title=Limb deficiencies distal with micrognathia - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia |access-date=2023-02-27 |website=rarediseases.info.nih.gov |language=en}}</ref>

== Symptoms ==
Oligodactyly and micrognathia are the most well known symptoms of the disease. Other symptoms include:<ref name=":1" />

* Ankle and foot anomalies
* [[Medicine:Near-sightedness|Nearsightedness]]
* Kidney [[Medicine:Hypoplasia|hypoplasia]]/insufficiency
* [[Biology:Maxilla|Maxilla]] hypoplasia
* Microretrognathia
* Wrist and hand anomalies
* Ear anomalies
* [[Biology:Ulna|Ulna]] anomalies
* [[Medicine:Hearing loss|Hearing loss]]
* Cryptorchidism
* [[Medicine:High-arched palate|High-arched palate]]
* [[Medicine:Nystagmus|Nystagmus]]
* Microglossia
* Microdontia
* Macrocephaly
* [[Medicine:Cleft lip and cleft palate|Cleft palate]]
* Other oral anomalies

== References ==

{{reflist}}

[[Category:Autosomal recessive disorders]]



{{Sourceattribution|Buttien-Fryns syndrome}}