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Acrocephalosyndactylia
Definition: Craniostenosis characterized by acrocephaly and syndactyly, probably occurring as an autosomal dominant trait and usually as a new mutation. (Dorland, 27th ed)

Synonym(s): Apert Syndrome / Pfeiffer Syndrome / Saethre-Chotzen Syndrome / Acrocephalosyndactylias / Saethre Chotzen Syndrome / Syndrome, Apert / Syndrome, Pfeiffer / Syndrome, Saethre-Chotzen
See also:
Receptor, Fibroblast Growth Factor, Type 2   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Apert syndrome?
Apert syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped u ...

How common is Apert syndrome?
Apert syndrome affects about 1 in 100,000 individuals.


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  Web resources for "Acrocephalosyndactylia"
  English (14)  French (2)  German (1)  Spanish (1)  Portuguese (1)  Italian (1)  

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the robot description of the site Orphanet Journal of Rare Diseases | Full text | Pfeiffer syndromewww.ojrd.com  
view the HON description of the site HONcode - Apert Syndrome * Conditions and Treatments for Aural Atresia * Apert Syndromewww.atresiarepair.com  
view the HON description of the site HONcode - Pfeiffer syndrome - Genetics Home Referenceghr.nlm.nih.gov 6
view the robot description of the site BBC - Health: Apert syndrome www.bbc.co.uk 2
view the robot description of the site what is apert syndrome?www.apert.org 3
view the HON description of the site HONcode - Apert syndromewww.healthcentral.com  
view the HON description of the site HONcode - Apert syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the robot description of the site Apert Syndrome / Family Villagewww.familyvillage.wisc.edu  
view the HON description of the site HONcode - Orphanet: Pfeiffer syndromewww.orpha.net 7
view the HON description of the site HONcode - Apert's Syndromewww.fpnotebook.com  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org 3
view the robot description of the site Whonamedit - Apert's syndromewww.whonamedit.com 2
view the robot description of the site Germinal mosaicism Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.comwww.wrongdiagnosis.com  
view the robot description of the site Differential Diagnosis For Mitten hand syndactylyen.diagnosispro.com  
 
 

Broader term(s): - Craniosynostoses - Synostosis - Dysostoses - Bone Diseases, Developmental - Bone Diseases - Musculoskeletal Diseases - Syndactyly

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  Medical image(s) for "Acrocephalosyndactylia"
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Broader term(s): - Craniosynostoses - Syndactyly
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  Medical News for "Acrocephalosyndactylia"
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  Scientific articles from MEDLINE for "Acrocephalosyndactylia"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Congenital Abnormalities
                  Musculoskeletal Abnormalities
                      Synostosis
                          Syndactyly 
                          Craniosynostoses 
                      Limb Deformities, Congenital
                          Syndactyly 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Congenital Abnormalities
                  Musculoskeletal Abnormalities
                      Craniofacial Abnormalities
                          Craniosynostoses 
      Diseases
          Musculoskeletal Diseases
              Musculoskeletal Abnormalities
                  Synostosis
                      Syndactyly 
                      Craniosynostoses 
                  Limb Deformities, Congenital
                      Syndactyly 
      Diseases
          Musculoskeletal Diseases
              Musculoskeletal Abnormalities
                  Craniofacial Abnormalities
                      Craniosynostoses 
              Bone Diseases
                  Bone Diseases, Developmental
                      Dysostoses
                          Synostosis
                              Syndactyly 
                              Craniosynostoses 

MeSH 2010 © U.S. National Library of Medicine®.

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