Acrocephalosyndactylia

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

Acrocephalosyndactylia
Other names	ACS[1]
Acrocephalosyndactylia is inherited in an autosomal dominant manner
Specialty	Medical genetics

Diagnosis

Classification

It has several different types:

• type 1 – Apert syndrome[3][4]^:577
• type 2 – Crouzon syndrome[4]^:577[5]
• type 3 – Saethre–Chotzen syndrome
• type 4 - Goodman Syndrome[6]
• type 5 – Pfeiffer syndrome[7][8]

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[8]
• type 2 – Carpenter syndrome[9]
• type 3 – Sakati–Nyhan–Tisdale syndrome[10]
• type 4 – Goodman syndrome;[11][12] now classified with Carpenter syndrome[13]
• type 5 – Pfeiffer syndrome

It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[14]

See also

• List of skin conditions
• Oxycephaly

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.

External links

Classification	D ICD-10: Q87.0 ICD-9-CM: 755.55 MeSH: D000168
External resources	Orphanet: 946

• Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH)