Acrocephalosyndactyly
| Acrocephalosyndactylia | |
|---|---|
 | |
| Acrocephalosyndactylia is inherited in an autosomal dominant manner | |
| Specialty | Medical genetics  |
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]
Cause
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Diagnosis
Classification
It has several different types:
- type 1 – Apert syndrome[2][3]: 577
- type 2 – Crouzon syndrome[3]: 577 [4]
- type 3 – Saethre-Chotzen syndrome[5]
- type 5 – Pfeiffer syndrome[6][7]
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[7]
- type 2 – Carpenter syndrome[8]
- type 3 – Sakati-Nyhan-Tisdale syndrome[9]
- type 4 – Goodman syndrome;[10][11] now classified with Carpenter syndrome[12]
- type 5 – Pfeiffer syndrome
It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[13]
Treatment
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See also
References
- ^ 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.
- ^ Diseases Database (DDB): Apert syndrome
- ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Online Mendelian Inheritance in Man (OMIM): Apert syndrome - 101200
- ^ Diseases Database (DDB): Saethre-Chotzen syndrome
- ^ Diseases Database (DDB): Pfeiffer syndrome
- ^ a b Online Mendelian Inheritance in Man (OMIM): Pfeiffer syndrome - 101600
- ^ Online Mendelian Inheritance in Man (OMIM): Carpenter syndrome - 201000
- ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type III - 101120
- ^ Online Mendelian Inheritance in Man (OMIM): Acrocephalopolysyndactyly type IV - 201020
- ^ 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.
- ^ 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.
- ^ 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
- Acrocephalosyndactylia at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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