Brachydactyly-preaxial hallux varus syndrome
| Brachydactyly-preaxial hallux varus syndrome | |
|---|---|
| Other names | Christian brachydactyly |
 | |
| 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
[edit]- ^ 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. PMC 1762298. PMID 5082920.
- ^ "Orphanet: Brachydactyly preaxial hallux varus syndrome". www.orpha.net. Retrieved 2022-07-03.
- ^ "Brachydactyly-preaxial hallux varus syndrome (Concept Id: C1862162) - MedGen -NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-03.
- ^ "Brachydactyly preaxial with hallux varus and thumb abduction - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-03.
- ^ "Entry - 112450 - Brachydactyly, preaxial, with hallus varus and thumb abduction - OMIM". omim.org. Retrieved 2022-07-03.
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