Scalp defects-postaxial polydactyly syndrome

Scalp defects-postaxial polydactyly

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

1. ↑ 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.
2. ↑ "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.
3. ↑ "OMIM Entry - 181250 - SCALP DEFECTS AND POSTAXIAL POLYDACTYLY" (in en-us). https://omim.org/entry/181250#1.
4. ↑ 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/.
5. ↑ 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/.

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Scalp defects-postaxial polydactyly syndrome. Read more

|

Retrieved from "https://handwiki.org/wiki/index.php?title=Medicine:Scalp_defects-postaxial_polydactyly_syndrome&oldid=2930545"