先端異形成症、尖頭合指症
- 関
- Apert syndrome、Pfeiffer syndrome、Saethre-Chotzen syndrome
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/03/29 20:16:02」(JST)
[Wiki en表示]
| Acrocephalosyndactylia |
| Classification and external resources |
| ICD-10 |
Q87.0 |
| ICD-9 |
755.55 |
| MeSH |
D000168 |
Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly.[1]
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Contents
- 1 Classification
- 2 See also
- 3 References
- 4 External links
|
Classification
It has several different types:
- type 1 - Apert syndrome[2][3]:577
- type 2 - Apert 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
- List of cutaneous conditions
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. http://linkinghub.elsevier.com/retrieve/pii/S0022346803007310.
- ^ 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
- ^ DDB Saethre-Chotzen syndrome
- ^ 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
- MeSH Acrocephalosyndactylia
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Congenital abnormality · multiple abnormalities (Q87, 759.7)
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| Craniofacial |
Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome)
other: Möbius syndrome · Goldenhar syndrome · Cyclopia
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|
| Short stature |
1q21.1 deletion syndrome · Aarskog–Scott syndrome · Cockayne syndrome · Cornelia de Lange Syndrome · Dubowitz syndrome · Noonan syndrome · Robinow syndrome · Silver–Russell syndrome · Seckel syndrome · Smith-Lemli-Opitz syndrome-Turner syndrome
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|
| Limbs |
Adducted thumb syndrome · Holt-Oram syndrome · Klippel-Trénaunay-Weber syndrome · Nail–patella syndrome · Rubinstein-Taybi syndrome
Gastrulation/mesoderm: Caudal regression syndrome · ectromelia (Sirenomelia) · VACTERL association
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| Overgrowth |
Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome
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| Laurence-Moon-Bardet-Biedl |
Bardet–Biedl syndrome · Laurence-Moon syndrome
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Combined/other,
known locus |
3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)
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English Journal
- Audiologic findings in Saethre-Chotzen syndrome.
- Rosen H, Andrews BT, Meara JG, Stoler JM, Mulliken JB, Rogers GF.SourceDepartment of Plastic and Oral Surgery, Children's Hospital Boston, Boston, Mass. 02115, USA.
- Plastic and reconstructive surgery.Plast Reconstr Surg.2011 May;127(5):2014-20.
- BACKGROUND: Hearing loss has been described in Apert syndrome but is poorly documented in other craniosynostosis disorders.METHODS: The authors retrospectively reviewed the audiologic and otologic records of patients with Saethre-Chotzen syndrome to define the incidence, type, and extent of hearing
- PMID 21532428
- [7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].
- Cremades DM, Trives IM, Lopez VB, Mas LA, Martinez MR, Sanchez FG.SourceUnidad de Neonatologia, Hospital General Universitario, Alicante, Espana.
- Anales de pediatria (Barcelona, Spain : 2003).An Pediatr (Barc).2011 Apr;74(4):266-9. Epub 2011 Feb 5.
- Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If delet
- PMID 21296629
Japanese Journal
- Acrocephalosyndactylia2症例の経験 特に治療法についての検討
Related Links
- Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly. Contents. 1 Classification; 2 See also; 3 References; 4 External links. [edit] Classification. It has several different types: ...
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- 英
- acrocephalosyndactylia, ACS
- 関
- アペール症候群、パイフェル症候群、セートレ・ヒョツェン症候群、先端異形成症
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セートレ・ヒョツェン症候群、Saethre-Chotzen症候群
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- acrocephalosyndactylia、Apert syndrome、Pfeiffer syndrome
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- acrocephalosyndactylia
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-尖頭合指症
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