Acrocephalopolysyndactyly Type II

Also Known As:

ACPS II; Carpenter Syndrome

Networked: 10 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Acrocephalosyndactylia: 352
        Acrocephalopolysyndactyly Type II: 10
        Syndactyly: 353
        Acrocephalosyndactylia: 352
        Acrocephalopolysyndactyly Type II: 10
- Musculoskeletal Abnormalities: 43
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Musculoskeletal Abnormalities: 43

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Intellectual Disability (Idiocy)
3.	Mental Disorders (Mental Disorder)
4.	Craniosynostoses (Craniosynostosis)
5.	Syndactyly (Polysyndactyly)

Experts

1.	Jenkins, Dagan: 2 articles (11/2012 - 04/2011)
2.	Wilkie, Andrew O M: 2 articles (11/2012 - 04/2011)
3.	Arias, Benjamin: 1 article (01/2021)
4.	Hosomichi, Kazuyoshi: 1 article (01/2021)
5.	Romero, Vanessa I: 1 article (01/2021)
6.	Sáenz, Samantha S: 1 article (01/2021)
7.	Hasan, Md Rakibul: 1 article (01/2020)
8.	Ma, Hongqiang: 1 article (01/2020)
9.	Mustonen, Tuija: 1 article (01/2020)
10.	Rice, David Pc: 1 article (01/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acrocephalopolysyndactyly Type II:

1.	Epidermal Growth Factor (EGF)IBA 11/02/2012 - "Here, we describe a disorder caused by mutations in multiple epidermal-growth-factor-like-domains 8 (MEGF8), which exhibits substantial clinical overlap with Carpenter syndrome but is frequently associated with abnormal left-right patterning. " 01/01/2022 - "Our studies provide insights into human MEGF8 functions and potentially into mechanisms that may underlie intellectual disabilities observed in Carpenter syndrome as well as MEGF8-related synaptic structural and/or functional deficits in psychiatric disorders.SIGNIFICANCE STATEMENT Carpenter syndrome, known for over a century now, is a genetic disorder linked to mutations in Multiple Epidermal Growth Factor-like Domains 8 (MEGF8) gene and associated with intellectual disabilities among other symptoms. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Carpenter syndrome is often caused by changes to the gene responsible for making a protein called RAB23. " 11/02/2012 - "Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization." 01/01/2013 - "Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. "
3.	Monomeric GTP-Binding ProteinsIBA 04/01/2011 - "Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. " 01/01/2013 - "Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. "
4.	Messenger RNA (mRNA)IBA 01/01/2013 - "A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family."
5.	NucleotidesIBA 01/01/2013 - "A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family."
6.	Carrier Proteins (Binding Protein)IBA 01/01/2020 - "Mutations in the gene encoding Ras-associated binding protein 23 (RAB23) cause Carpenter Syndrome, which is characterized by multiple developmental abnormalities including polysyndactyly and defects in skull morphogenesis. "
7.	Anesthetics (Anesthetic Agents)IBA 12/01/2008 - "Anesthetic implications of Carpenter syndrome (Acrocephalopolysyndactyly type II)."

Therapies and Procedures

1.	Sutures (Suture) 07/01/2012 - "She was diagnosed as a case of Carpenter syndrome having acrocephaly prominent ridge of sagital suture, polydactyly, syndyctyly on history, clinical examination findings and investigation reports." 03/01/2009 - "Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). "
2.	Craniotomy 01/01/2021 - "We described two brothers clinically diagnosed with Carpenter syndrome, which is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems, for which they underwent craniotomies. "
3.	Cesarean Section (Caesarean Section) 07/01/2013 - "We describe the anaesthetic management for caesarean section of a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. " 07/01/2013 - "Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot."