Acrocephalosyndactylia

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[2]

Acrocephalosyndactylia
Other namesACS[1]
Acrocephalosyndactylia is inherited in an autosomal dominant manner
SpecialtyMedical genetics 

Diagnosis

Classification

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.[14]

See also

References

  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. 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. Diseases Database (DDB): Saethre-Chotzen syndrome
  7. Diseases Database (DDB): Pfeiffer syndrome
  8. Online Mendelian Inheritance in Man (OMIM): Pfeiffer syndrome - 101600
  9. Online Mendelian Inheritance in Man (OMIM): Carpenter syndrome - 201000
  10. Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type III - 101120
  11. Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020
  12. 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.
  13. 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.
  14. 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.
Classification
External resources


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