Acrocephalosyndactyly
In pediatric medicine, acrocephalosyndactyly is the common presentation of craniosynostosis and syndactyly.[2] When there is also polydactyly the classification is acrocephalopolysyndactyly.
| Acrocephalosyndactyly | |
|---|---|
| Other names | ACS[1] |
 | |
| Acrocephalosyndactyly is inherited in an autosomal dominant manner | |
| Specialty | Medical genetics  |
Cause
Diagnosis
Classification
It has several different types:
- type I – Apert syndrome[3][4]: 577
- type II – Crouzon syndrome[4]: 577 [5]
- type III – Saethre–Chotzen syndrome[6]
- type IV – Goodman Syndrome[7]
- type V – Pfeiffer syndrome[8][9]
A related term, acrocephalopolysyndactyly, refers to the inclusion of polydactyly to the presentation. It also has multiple types:
- type I – Noack syndrome; now classified with Pfeiffer syndrome[9]
- type II – Carpenter syndrome[10]
- type III – Sakati–Nyhan–Tisdale syndrome[11]
- type IV – Goodman syndrome;[12][13] now classified with Carpenter syndrome[14]
- type V – Pfeiffer syndrome
It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[15]
See also
References
- RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Acrocephalosyndactyly". www.orpha.net. Retrieved 17 July 2019.
- 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
- 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
- Sheikh, Yusra. "Saethre-Chotzen syndrome | Radiology Reference Article | Radiopaedia.org". Radiopaedia. Retrieved 7 May 2022.
- Diseases Database (DDB): Saethre-Chotzen syndrome
- Diseases Database (DDB): Pfeiffer syndrome
- 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. S2CID 37451807.
- 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 US National Library of Medicine Medical Subject Headings (MeSH)
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