Buttien-Fryns syndrome explained

Buttien-Fryns syndrome
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 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. 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:

• 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

Notes and References

1. 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 . Journal of Medical Genetics . en . 47 . 2 . 103–111 . 10.1136/jmg.2008.065888 . 19584065 . 39968814 . 0022-2593.
2. Web site: Orphanet: Distal limb deficiencies micrognathia syndrome . 2023-02-27 . www.orpha.net.
3. Web site: Distal limb deficiency with micrognathia syndrome (Concept Id: C4302673) - MedGen - NCBI . 2023-02-27 . www.ncbi.nlm.nih.gov . en.
4. Web site: Limb deficiencies distal with micrognathia - About the Disease - Genetic and Rare Diseases Information Center . 2023-02-27 . rarediseases.info.nih.gov . en.