Acrocephalosyndactyly

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Acrocephalosyndactyly
Other namesACS[1]
Autosomal dominant - en.svg
Acrocephalosyndactyly is inherited in an autosomal dominant manner
SpecialtyMedical genetics Edit this on Wikidata

In pediatric medicine, acrocephalosyndactyly is the common presentation of craniosynostosis and syndactyly.[2] When there is also polydactyly the classification is acrocephalopolysyndactyly.

Cause[edit]

Diagnosis[edit]

Classification[edit]

It has several different types:

A related term, acrocephalopolysyndactyly, refers to the inclusion of polydactyly to the presentation. It also has multiple types:

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[15]

Treatment[edit]

See also[edit]

References[edit]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrocephalosyndactyly". www.orpha.net. Retrieved 17 July 2019.
  2. ^ Kodaka T, Kanamori Y, Sugiyama M, Hashizume K (January 2004). "A case of acrocephalosyndactyly with low imperforate anus". J. Pediatr. Surg. 39 (1): E32–4. doi:10.1016/j.jpedsurg.2003.09.037. PMID 14694405.
  3. ^ Diseases Database (DDB): Apert syndrome
  4. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  5. ^ Online Mendelian Inheritance in Man (OMIM): Apert syndrome - 101200
  6. ^ Sheikh, Yusra. "Saethre-Chotzen syndrome | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 7 May 2022.
  7. ^ Diseases Database (DDB): Saethre-Chotzen syndrome
  8. ^ Diseases Database (DDB): Pfeiffer syndrome
  9. ^ a b Online Mendelian Inheritance in Man (OMIM): Pfeiffer syndrome - 101600
  10. ^ Online Mendelian Inheritance in Man (OMIM): Carpenter syndrome - 201000
  11. ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type III - 101120
  12. ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020
  13. ^ Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y (March 1979). "Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs". Clin. Genet. 15 (3): 209–14. doi:10.1111/j.1399-0004.1979.tb00969.x. PMID 421359. S2CID 37451807.
  14. ^ Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA (October 1987). "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". Am. J. Med. Genet. 28 (2): 311–24. doi:10.1002/ajmg.1320280208. PMID 3322002.
  15. ^ Cohen MM, Kreiborg S (May 1995). "Hands and feet in the Apert syndrome". Am. J. Med. Genet. 57 (1): 82–96. doi:10.1002/ajmg.1320570119. PMID 7645606.

External links[edit]