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Autosomal dominant - en.svg
Acrocephalosyndactylia is inherited in an autosomal dominant manner
SpecialtyMedical genetics Edit this on Wikidata

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]




It has several different types:

A related term, "acrocephalopolysyndactyly" (ACPS), 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.[13]


See also[edit]


  1. ^ 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.
  2. ^ DDB Apert syndrome
  3. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  4. ^ Online Mendelian Inheritance in Man (OMIM) Apert syndrome -101200
  5. ^ DDB Saethre-Chotzen syndrome
  6. ^ DDB Pfeiffer syndrome
  7. ^ a b Online Mendelian Inheritance in Man (OMIM) Pfeiffer syndrome -101600
  8. ^ Online Mendelian Inheritance in Man (OMIM) Carpenter syndrome -201000
  9. ^ Online Mendelian Inheritance in Man (OMIM) Acrocephalopolysyndactyly type III -101120
  10. ^ Online Mendelian Inheritance in Man (OMIM) Acrocephalopolysyndactyly type IV -201020
  11. ^ 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.
  12. ^ 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.
  13. ^ 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.

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External resources