Scalp defects-postaxial polydactyly syndrome

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]

Scalp defects-postaxial polydactyly
Foot postaxial polydactyly
SpecialtyMedical genetics
SymptomsAutosomal dominant postaxial polydactyly and scalp defects from birth
Usual onsetConception
DurationLifelong (except polydactyly, which can be corrected)
CausesMutation
Preventionnone
PrognosisGood
Frequencyvery rare, only 9 cases have been described in medical literature

References

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  1. ^ 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)
  2. ^ "Scalp defects postaxial polydactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-11.
  3. ^ "OMIM Entry - 181250 - SCALP DEFECTS AND POSTAXIAL POLYDACTYLY". omim.org. Retrieved 2022-06-11.
  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.
  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.