- Acrocephalosyndactylia
Infobox_Disease
Name = PAGENAME
Caption =
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ICD10 = ICD10|Q|87|0|q|80
ICD9 = ICD9|755.55
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OMIM =
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MeshID = D000168Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of
craniosynostosis andsyndactyly .cite journal |author=Kodaka T, Kanamori Y, Sugiyama M, Hashizume K |title=A case of acrocephalosyndactyly with low imperforate anus |journal=J. Pediatr. Surg. |volume=39 |issue=1 |pages=E32–4 |year=2004 |month=January |pmid=14694405 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0022346803007310]It has several different types:
* type 1 -Apert syndrome [DiseasesDB|33968|Apert syndrome]
* type 2 -Apert syndrome [OMIM|101200|Apert syndrome]
* type 3 -Saethre-Chotzen syndrome [DiseasesDB|29331|Saethre-Chotzen syndrome]
* type 5 -Pfeiffer syndrome [DiseasesDB|32145|Pfeiffer syndrome] OMIM|101600|Pfeiffer syndrome]A related term, "acrocephalopolysyndactyly" (ACPS), refers to the inclusion of
polydactyly to the presentation. It also has multiple types:* type 1 - Noack syndrome. Now classified with Pfeiffer syndrome.
* type 2 -Carpenter syndrome [OMIM|201000|Carpenter syndrome]
* type 3 -Sakati-Nyhan-Tisdale syndrome [OMIM|101120|Acrocephalopolysyndactyly type III]
* type 4 - Goodman syndrome. [OMIM|201020|Acrocephalopolysyndactyly type IV] cite journal |author=Goodman RM, Sternberg M, Shem-Tov Y, Katznelson MB, Hertz M, Rotem Y |title=Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs |journal=Clin. Genet. |volume=15 |issue=3 |pages=209–14 |year=1979 |month=March |pmid=421359 |doi= |url=] Now classified with Carpenter syndrome.cite journal |author=Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA |title=Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes |journal=Am. J. Med. Genet. |volume=28 |issue=2 |pages=311–24 |year=1987 |month=October |pmid=3322002 |doi=10.1002/ajmg.1320280208 |url=]
* type 5 -Pfeiffer syndrome It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.cite journal |author=Cohen MM, Kreiborg S |title=Hands and feet in the Apert syndrome |journal=Am. J. Med. Genet. |volume=57 |issue=1 |pages=82–96 |year=1995 |month=May |pmid=7645606 |doi=10.1002/ajmg.1320570119 |url=]
References
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