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Acrocephalosyndactylia (Apert Syndrome)

Congenital craniostenosis with syndactyly.
Also Known As:
Apert Syndrome; Pfeiffer Syndrome; Saethre Chotzen Syndrome; Syndrome, Pfeiffer; Syndrome, Apert; Acrocephalosyndactyly (Apert); Acrocephalosyndactyly III; Acrocephalosyndactyly, Type 1; Acrocephalosyndactyly, Type 3; Acrocephalosyndactyly, Type I; Acrocephalosyndactyly, Type II; Acrocephalosyndactyly, Type III; Acrocephalosyndactyly, Type V; Acrocephaly, Skull Asymmetry, and Mild Syndactyly; Apert-Crouzon Disease; Chotzen Syndrome; Craniofacial-Skeletal-Dermatologic Dysplasia; Dysostosis Craniofacialis with Hypertelorism; Kurczynski Casperson Syndrome; Noack Syndrome; Syndactylic Oxycephaly; Acrocephalosyndactylias; Acrocephalosyndactylies, Type 1; Acrocephalosyndactylies, Type 3; Acrocephalosyndactylies, Type I; Acrocephalosyndactylies, Type II; Acrocephalosyndactylies, Type III; Acrocephalosyndactylies, Type V; Acrocephalosyndactyly IIIs; Apert Crouzon Disease; Disease, Apert-Crouzon; Noack Syndromes; Syndactylic Oxycephalies; Syndrome, Chotzen; Syndrome, Kurczynski Casperson; Syndrome, Noack; Syndrome, Saethre-Chotzen; Syndromes, Noack; Type I Acrocephalosyndactylies; Type I Acrocephalosyndactyly; Type II Acrocephalosyndactylies; Type II Acrocephalosyndactyly; Type III Acrocephalosyndactyly; Type V Acrocephalosyndactylies; Type V Acrocephalosyndactyly; Saethre-Chotzen Syndrome
Networked: 352 relevant articles (3 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Choanal Atresia
2. Congenital Abnormalities (Deformity)
3. Craniosynostoses (Craniosynostosis)
4. Synostosis
5. Craniofacial Dysostosis (Crouzon Disease)

Experts

1. Jabs, Ethylin Wang: 12 articles (01/2019 - 12/2003)
2. Wilkie, Andrew O M: 11 articles (01/2022 - 04/2005)
3. Richtsmeier, Joan T: 9 articles (01/2019 - 02/2010)
4. Mathijssen, Irene M J: 6 articles (02/2022 - 01/2008)
5. Moriyama, Keiji: 6 articles (01/2021 - 10/2004)
6. Chen, Lin: 6 articles (12/2018 - 08/2003)
7. Wang, Yingli: 6 articles (05/2013 - 07/2008)
8. Raposo-Amaral, Cassio Eduardo: 5 articles (01/2022 - 02/2014)
9. Raposo-Amaral, Cesar Augusto: 5 articles (01/2022 - 02/2014)
10. Ghizoni, Enrico: 4 articles (01/2022 - 01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acrocephalosyndactylia:
1. Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA
2. HydrogelsIBA
3. Bone SubstitutesIBA
4. Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA
5. NucleotidesIBA
6. LigandsIBA
7. GlycosaminoglycansIBA
8. Small Interfering RNA (siRNA)IBA
9. SiliconesIBA
10. Polyglycolic Acid (Polyglycolide)IBA

Therapies and Procedures

1. Osteotomy
2. Sutures (Suture)
3. Distraction Osteogenesis
4. Craniotomy
5. Oral Surgery (Maxillofacial Surgery)
01/01/2018 - "As an example, we printed the skull of a patient with Saethre-Chotzen syndrome who was undergoing maxillofacial surgery. "
01/01/2015 - "We recently encountered a case involving a patient with Apert syndrome complicated by OSA who began to receive continuous positive airway pressure (CPAP) therapy at the age of 4. OSA resolved after maxillofacial surgery performed at the age of 11, and CPAP was eventually withdrawn. "
01/01/2022 - "This study included 60 patients (38 patients with Muenke syndrome, 17 patients with Saethre-Chotzen syndrome, and 5 with TCF12-related craniosynostosis), aged 5.8-16.8 years that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care, and Orthodontics, in Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, the Netherlands. "
03/01/2022 - "We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. "
07/01/2019 - "Forty-eight patients (34 patients with Muenke syndrome, 8 patients with Saethre-Chotzen syndrome, and 6 patients with TCF12-related craniosynostosis) born between 1982 and 2010 (age range 4.84 to 16.83 years) that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands, were included. "