Medicine:Scalp defects-postaxial polydactyly syndrome
From HandWiki
| Scalp defects-postaxial polydactyly | |
|---|---|
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| Foot postaxial polydactyly | |
| Specialty | Medical genetics |
| Symptoms | Autosomal dominant postaxial polydactyly and scalp defects from birth |
| Usual onset | Conception |
| Duration | Lifelong (except polydactyly, which can be corrected) |
| Causes | Mutation |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare, only 9 cases have been described in medical literature |
Scalp defects-postaxial polydactyly syndrome is a very rare genetic disorder which is characterized by congenital defects of the scalp and type A postaxial polydactyly.[1][2] An additional finding is severe intellectual disability. It is thought to be inherited in an autosomal dominant manner. Approximately 9 cases from two families have been described in medical literature.[3][4][5]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Scalp defects postaxial polydactyly syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1003.
- ↑ "Scalp defects postaxial polydactyly - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/241/scalp-defects-postaxial-polydactyly.
- ↑ "OMIM Entry - 181250 - SCALP DEFECTS AND POSTAXIAL POLYDACTYLY" (in en-us). https://omim.org/entry/181250#1.
- ↑ Fryns, J. P.; Van den Berghe, H. (1979-06-19). "Congenital scalp defects associated with postaxial polydactyly". Human Genetics 49 (2): 217–219. doi:10.1007/BF00277645. ISSN 0340-6717. PMID 468253. https://pubmed.ncbi.nlm.nih.gov/468253/.
- ↑ Buttiëns, M.; Fryns, J. P.; Jonckheere, P.; Brouckmans-Buttiëns, K.; Van den Berghe, H. (1985). "Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance". Human Genetics 71 (1): 86–88. doi:10.1007/BF00295675. ISSN 0340-6717. PMID 4029956. https://pubmed.ncbi.nlm.nih.gov/4029956/.
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