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

↑ 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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[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/.

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Scalp defects-postaxial polydactyly syndrome

Topic: Medicine

References