Scalp defects-postaxial polydactyly syndrome
| 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
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Scalp defects postaxial polydactyly syndrome". www.orpha.net. Retrieved 2022-06-11.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Scalp defects postaxial polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-11.
- ^ "OMIM Entry - 181250 - SCALP DEFECTS AND POSTAXIAL POLYDACTYLY". omim.org. Retrieved 2022-06-11.
- ^ 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.
- ^ 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.
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