| 词条 | Acrocephalosyndactylia |
| 释义 |
| name = Acrocephalosyndactylia | image = Autosomal dominant - en.svg | caption = Acrocephalosyndactylia is inherited in an autosomal dominant manner || | pronounce = | field = | synonyms = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1] Cause{{Empty section|date=August 2017}}DiagnosisClassificationIt 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] Treatment{{Empty section|date=August 2017}}See also
References1. ^{{cite journal |vauthors =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 |date=January 2004 |pmid=14694405 |doi= 10.1016/j.jpedsurg.2003.09.037|url=http://linkinghub.elsevier.com/retrieve/pii/S0022346803007310}} 2. ^{{DiseasesDB|33968|Apert syndrome}} 3. ^1 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. {{ISBN|0-7216-2921-0}}. 4. ^{{OMIM|101200|Apert syndrome}} 5. ^{{DiseasesDB|29331|Saethre-Chotzen syndrome}} 6. ^{{DiseasesDB|32145|Pfeiffer syndrome}} 7. ^1 {{OMIM|101600|Pfeiffer syndrome}} 8. ^{{OMIM|201000|Carpenter syndrome}} 9. ^{{OMIM|101120|Acrocephalopolysyndactyly type III}} 10. ^{{OMIM|201020|Acrocephalopolysyndactyly type IV}} 11. ^{{cite journal |vauthors =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 |date=March 1979 |pmid=421359 |doi= 10.1111/j.1399-0004.1979.tb00969.x|url=}} 12. ^{{cite journal |vauthors =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 |date=October 1987 |pmid=3322002 |doi=10.1002/ajmg.1320280208 |url=}} 13. ^{{cite journal |vauthors =Cohen MM, Kreiborg S |title=Hands and feet in the Apert syndrome |journal=Am. J. Med. Genet. |volume=57 |issue=1 |pages=82–96 |date=May 1995 |pmid=7645606 |doi=10.1002/ajmg.1320570119 |url=}} External links{{Medical resources| DiseasesDB = | ICD10 = {{ICD10|Q|87|0|q|80}} | ICD9 = {{ICD9|755.55}} | ICDO = | OMIM = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = D000168 | Orphanet = 946 }}
1 : Genodermatoses |
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