Acrocephalosyndactylia
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| Acrocephalosyndactylia | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q87.0 |
| ICD-9-CM | 755.55 |
| Patient UK | Acrocephalosyndactylia |
| MeSH | D000168 |
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]
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]
See also
References
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ DDB Apert syndrome
- ↑ 3.0 3.1 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
- ↑ DDB Saethre-Chotzen syndrome
- ↑ DDB Pfeiffer syndrome
- ↑ 7.0 7.1 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
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- Acrocephalosyndactylia at the US National Library of Medicine Medical Subject Headings (MeSH)
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