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Acrocephalosyndactylia (Apert Syndrome)

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Congenital craniostenosis with syndactyly.

Also Known As:

Apert Syndrome; Pfeiffer Syndrome; Saethre Chotzen Syndrome; Syndrome, Pfeiffer; Syndrome, Apert; Acrocephalosyndactyly, Type 1; Apert-Crouzon Disease; Kurczynski Casperson Syndrome; Syndactylic Oxycephaly; Acrocephalosyndactylias; Acrocephalosyndactylies, Type 1; Apert Crouzon Disease; Disease, Apert-Crouzon; Syndactylic Oxycephalies; Syndrome, Kurczynski Casperson; Syndrome, Saethre-Chotzen; Saethre-Chotzen Syndrome

Networked: 259 relevant articles (1 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Craniofacial Dysostosis (Crouzon Disease)
2.	Craniosynostoses (Craniosynostosis)
3.	Synostosis
4.	Neoplasms (Cancer)
5.	Acrocephalosyndactylia (Apert Syndrome)

Experts

1.	Jabs, Ethylin Wang: 10 articles (06/2014 - 12/2003)
2.	Mathijssen, Irene M J: 7 articles (06/2014 - 01/2008)
3.	Richtsmeier, Joan T: 6 articles (06/2014 - 01/2010)
4.	Wang, Yingli: 6 articles (05/2013 - 07/2008)
5.	Wilkie, Andrew O M: 6 articles (05/2013 - 04/2005)
6.	Mulliken, John B: 4 articles (11/2015 - 12/2003)
7.	Bartlett, Scott P: 4 articles (10/2015 - 11/2012)
8.	Chen, Lin: 4 articles (05/2013 - 08/2003)
9.	Hajihosseini, Mohammad K: 4 articles (05/2011 - 11/2006)
10.	Marie, Pierre J: 4 articles (10/2006 - 02/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acrocephalosyndactylia:

1.	HydrogelIBA 07/01/2008 - "Complementary to in vivo findings, this 3D hydrogel culture system provides an effective in vitro venue to study the pathogenesis of Apert syndrome caused by the analogous mutation in humans." 07/01/2008 - "The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model."
2.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 08/01/2010 - "The changes in form characterized in this study will help to elucidate the mechanisms through which the Pro253Arg mutation in fibroblast growth factor receptor 2 affects craniofacial development and causes Apert syndrome." 09/01/2007 - "The frequency of the most common sporadic Apert syndrome mutation (C755G) in the human fibroblast growth factor receptor 2 gene (FGFR2) is 100-1,000 times higher than expected from average nucleotide substitution rates based on evolutionary studies and the incidence of human genetic diseases. " 11/01/2006 - "To study the role of mesenchymal FGF signaling in the differentiation of the mesenchyme and its impact on epithelial morphogenesis, we took advantage of Fgfr2c(+/Delta) mice, which due to a splicing switch express Fgfr2b in mesenchymal tissues and manifest Apert syndrome-like phenotypes. " 01/01/2015 - "Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome." 01/01/2014 - "Apert syndrome is an autosomal dominantly inherited disorder caused by missense mutations in fibroblast growth factor receptor 2 (FGFR2). "
3.	tranilast (N 5')IBA 05/01/2012 - "In this study, 8 patients (n = 3 females, n = 5 males) affected by craniofacial dysostosis (Crouzon, n = 5; Apert, n = 3; Pfeiffer syndrome, n = 1; and other, n = 1) were selected on the basis of age and radiologic documentation. " 11/01/2015 - "Fifteen patients had a syndromic diagnosis: Crouzon syndrome (n = 8), Saethre-Chotzen syndrome (n = 5), and Pfeiffer syndrome (n = 2). " 03/01/2008 - "Charts were retrieved from 119 consecutive patients treated for craniosynostosis: 62 percent were boys, and 11 percent were treated for craniofacial dysostosis (Apert syndrome, n = 2; Crouzon syndrome, n = 4; Saethre-Chotzen syndrome, n = 5; and other, n = 2). "
4.	GlycosaminoglycansIBA 03/17/2006 - "Inhibition or activation of Apert syndrome FGFR2 (S252W) signaling by specific glycosaminoglycans." 12/01/1973 - "Apert syndrome and palatal mucopolysaccharides." 03/17/2006 - "These studies demonstrated that specific glycosaminoglycans could be useful in treating ligand-dependent FGFR signaling-related diseases, such as Apert syndrome and cancer."
5.	Frontonasal dysplasiaIBA 04/01/1985 - "The method of mean tensor analysis was used to study the cranial base in six craniofacial anomalies: Crouzon's disease, Apert's syndrome, Pfeiffer's syndrome, craniofacial microsomia (CFM), Treacher Collins (TC) syndrome, and frontonasal dysplasia (FND). " 01/01/1990 - "The relationship between oculo-auriculo-vetebral spectrum with encephalocele and frontonasal dysplasia with epibulbar dermoids and ear tags is also discussed and an explanation for encephalocele formation in the Apert syndrome is provided. "
6.	SiliconesIBA 07/01/2001 - "This study reports on the incidence of a synostosis between the ring-small metacarpal bases in patients with Apert syndrome and describes a technique to resect the synostosis and insert silicone sheets to improve hand function. "
7.	Polyglycolic Acid (Polyglycolide)IBA 05/01/2011 - "To study the mechanism how polylactide-polyglycolide (PLPG) acid plates can induce osteoblast differentiation and proliferation in normal osteoblasts and in osteoblasts derived from a patient with Pfeiffer syndrome, the expression levels of bone-related genes were analyzed using real-time reverse transcription-polymerase chain reaction. "
8.	poly(lactide) (polylactide)IBA 05/01/2011 - "To study the mechanism how polylactide-polyglycolide (PLPG) acid plates can induce osteoblast differentiation and proliferation in normal osteoblasts and in osteoblasts derived from a patient with Pfeiffer syndrome, the expression levels of bone-related genes were analyzed using real-time reverse transcription-polymerase chain reaction. "
9.	Fibroblast Growth Factor Receptors (Fibroblast Growth Factor Receptor)IBA 12/01/2006 - "Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations." 11/15/2006 - "Saethre-Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2. However, Muenke et al. [(1997); Am J Hum Genet 91: 555-564] described a new subgroup carrying the Pro250Arg mutation in the fibroblast growth factor receptor (FGFR) 3 gene on chromosome 4p16. " 03/01/2006 - "Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by heterozygous mutations in Fibroblast Growth Factor Receptor (FGFR) genes. " 04/26/2005 - "C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father. " 09/01/2003 - "Apert syndrome is an autosomal dominant disease caused by mutations in fibroblast growth factor receptor (FGFR-2) and characterized by premature fusion of the cranial sutures and early epiphyseal closure. "
10.	Transcription Factors (Transcription Factor)IBA 05/01/2012 - "The basic helix-loop-helix (bHLH) transcription factor Twist1 fulfills an essential function in neural crest cell formation, migration, and survival and is associated with the craniosynostic Saethre-Chotzen syndrome in humans. " 10/01/2006 - "Genetic mutations of Twist, a basic helix-loop-helix transcription factor, induce premature fusion of cranial sutures in Saethre-Chotzen syndrome (SCS). " 04/01/2005 - "Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome. " 12/01/2003 - "The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. " 02/15/2002 - "Saethre-Chotzen syndrome (SCS) is a human autosomal dominant disorder characterized by premature fusion of cranial sutures caused by mutations of the Twist gene encoding a basic helix-loop-helix (bHLH) transcription factor. "

Therapies and Procedures

1.	Sutures (Suture) 04/24/1996 - "On the basis of our studies, we postulate that suture formation in Apert syndrome is related to the relative maturity of abutting calvarial bones. " 04/01/2015 - "Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal sutures and less frequently lambdoid suture) resulting in brachiturricephalic dismorphism and impaired skull base growth. " 03/01/2015 - "We present a boy with Apert syndrome caused by the pathogenic c.755C > G p.Ser252Trp mutation in the FGFR2 gene with atypical characteristics, including premature fusion of the metopic suture with a small anterior fontanel, hypotelorism, and a massive posterior fontanel. " 01/01/2014 - "We observed increased expression of Fgf10, Esrp1, and Fgfr2IIIb, which are indispensable for epidermal development, in coronal sutures in Apert syndrome mice. " 01/01/2014 - "We examine late embryonic skull development and suture patency in Fgfr2 Apert syndrome mice between embryonic day 17.5 and birth and quantify the effects of these mutations on 3D skull morphology, suture patency and growth. "
2.	Distraction Osteogenesis 09/01/2009 - "In this study, 40 patients, 22 Crouzon, 11 Apert, and 7 Pfeiffer syndrome who underwent a frontofacial monobloc advancement by distraction osteogenesis, were retrospectively reviewed, after a mean of 2.1 years of follow-up. " 10/01/2015 - "Posterior Vault Distraction Osteogenesis Conveys Anterior Benefit in Apert Syndrome." 09/01/2013 - "Craniofacial Stability in Patients With Crouzon or Apert Syndrome After Le Fort III Distraction Osteogenesis." 01/01/2011 - "Using the distraction osteogenesis technique, we performed occipital advancement followed immediately by fronto-orbital advancement for 2 cases of Crouzon syndrome and performed fronto-orbital advancement followed by occipital advancement for a case of Pfeiffer syndrome. " 09/01/2010 - "A 24-year-old female patient with Apert syndrome who underwent Le Fort III distraction osteogenesis is reported. "
3.	Spinal Fusion (Spondylosyndesis) 07/01/1996 - "Congenital cervical spinal fusion: a study in Apert syndrome." 07/01/1996 - "The implications for the aetiology of so-called "congenital' spinal fusions in Apert syndrome and other situations are discussed." 07/01/1996 - "The occurrence and pattern of cervical spinal fusions have been assessed in 59 cases of Apert syndrome (acrocephalosyndactyly type 1). "
4.	Hearing Aids (Hearing Aid) 05/01/2005 - "This study, of the largest number of Apert syndrome cases assembled to date, showed that early optimization of hearing with possible hearing aids needs to be considered. "
5.	Osteotomy 09/01/2012 - "In this article, we reported the simultaneous Le Fort I, II, and III osteotomies for segmental advancement of midface deficiency involving nasal bones, zygoma, inferior orbital rims, and maxilla in an adult Chinese patient with Apert syndrome. " 09/01/2012 - "Le Fort III osteotomy was usually applied to correct midface hypoplasia in Apert syndrome, and various surgical modifications have been developed in recent years. " 11/01/2010 - "Occipital expansion without osteotomies in Apert syndrome." 10/01/2010 - "A 10-year-old girl with Apert syndrome underwent a Le Fort III osteotomy with the positioning of internal and external distraction devices. " 09/01/2009 - "The reossification of the coronal osteotomy gap in patients with Pfeiffer syndrome is poor compared with those with Crouzon and Apert syndromes. "