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Brachydactyly-preaxial hallux varus syndrome

Topic: Medicine

 From HandWiki - Reading time: 1 min
Brachydactyly-preaxial hallux varus syndrome
Other namesChristian brachydactyly
Hands, feet, and radiographs of family with Brachydactyly-preaxial hallux varus syndrome.png
Radiographs and pictures of the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1]
SpecialtyMedical genetics
SymptomsMinor physical anomalies alongside intellectual disability
Diagnostic methodPhysical examination, radiography
Preventionnone
PrognosisGood
Frequency10 cases
Deaths-

Brachydactyly-preaxial hallux varus syndrome, also known as 'Christian brachydactyly, is a rare congenital and genetic limb malformation syndrome which is characterized by hallux varus, brachydactyly type D and Morton's toe, alongside the adduction of said digits.[2][3] Intellectual disabilities have also been reported.[4] 10 cases have been described in medical literature.[5]

References

  1. ↑ Christian, Joe C.; Cho, Kyu S.; Franken, Edmund A.; Thompson, Barry H. (November 1972). "Dominant preaxial brachydactyly with hallux varus and thumb abduction". American Journal of Human Genetics 24 (6 Pt 1): 694–701. PMID 5082920. 
  2. ↑ "Orphanet: Brachydactyly preaxial hallux varus syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1278. 
  3. ↑ "Brachydactyly-preaxial hallux varus syndrome (Concept Id: C1862162) - MedGen -NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/349442. 
  4. ↑ "Brachydactyly preaxial with hallux varus and thumb abduction - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/972/brachydactyly-preaxial-with-hallux-varus-and-thumb-abduction. 
  5. ↑ "Entry - 112450 - Brachydactyly, preaxial, with hallus varus and thumb abduction - OMIM" (in en-us). https://omim.org/entry/112450#3. 



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