Acrocephalosyndactylia
| Acrocephalosyndactylia | |
| ICD-10 | Q87.0 |
|---|---|
| ICD-9 | 755.55 |
| MeSH | D000168 |
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]
It has several different types:
- type 1 - Apert syndrome[2]
- type 2 - Apert syndrome[3]
- type 3 - Saethre-Chotzen syndrome[4]
- type 5 - Pfeiffer syndrome [5][6]
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.[6]
- type 2 - Carpenter syndrome [7]
- type 3 - Sakati-Nyhan-Tisdale syndrome [8]
- type 4 - Goodman syndrome.[9][10] Now classified with Carpenter syndrome.[11]
- type 5 - Pfeiffer syndrome
It has been suggested that the distinction between "acrocephalosyndactyly" versus "acrocephalopolysyndactyly" should be abandoned.[12]
References
- ↑ Kodaka T, Kanamori Y, Sugiyama M, Hashizume K (2004). "A case of acrocephalosyndactyly with low imperforate anus". J. Pediatr. Surg. 39 (1): E32–4. PMID 14694405. Unknown parameter
|month=ignored (help) - ↑ Template:DiseasesDB
- ↑ Online Mendelian Inheritance in Man (OMIM) Apert syndrome -101200
- ↑ Template:DiseasesDB
- ↑ Template:DiseasesDB
- ↑ 6.0 6.1 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 (1979). "Acrocephalopolysyndactyly type IV: a new genetic syndrome in 3 sibs". Clin. Genet. 15 (3): 209–14. PMID 421359. Unknown parameter
|month=ignored (help) - ↑ Cohen DM, Green JG, Miller J, Gorlin RJ, Reed JA (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. Unknown parameter
|month=ignored (help) - ↑ Cohen MM, Kreiborg S (1995). "Hands and feet in the Apert syndrome". Am. J. Med. Genet. 57 (1): 82–96. doi:10.1002/ajmg.1320570119. PMID 7645606. Unknown parameter
|month=ignored (help)
External links
- Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH)
Template:Phakomatoses and other congenital malformations not elsewhere classified