Medicine:Brachydactyly-preaxial hallux varus syndrome
From HandWiki
| Brachydactyly-preaxial hallux varus syndrome | |
|---|---|
| Other names | Christian brachydactyly |
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| Radiographs and pictures of the hands and feet of individuals with Brachydactyly-preaxial hallux varus syndrome.[1] | |
| Specialty | Medical genetics |
| Symptoms | Minor physical anomalies alongside intellectual disability |
| Diagnostic method | Physical examination, radiography |
| Prevention | none |
| Prognosis | Good |
| Frequency | 10 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
- ↑ 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.
- ↑ "Orphanet: Brachydactyly preaxial hallux varus syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1278.
- ↑ "Brachydactyly-preaxial hallux varus syndrome (Concept Id: C1862162) - MedGen -NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/349442.
- ↑ "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.
- ↑ "Entry - 112450 - Brachydactyly, preaxial, with hallus varus and thumb abduction - OMIM" (in en-us). https://omim.org/entry/112450#3.
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