Carpenter Syndrome

Common Name(s)

Carpenter Syndrome

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by {2:Altunhan et al., 2011}). Genetic Heterogeneity of Carpenter Syndrome Carpenter syndrome-2 (CRPT2; {614976}), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene ({604267}).
 

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Condition Specific Organizations

Following organizations serve the condition "Carpenter Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Carpenter Syndrome" returned 6 free, full-text research articles on human participants. First 3 results:

Cole-Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl: A case report.
 

Author(s): Lixue Ouyang, Fan Yang

Journal: Medicine (Baltimore). 2017 Dec;96(52):e9504.

 

Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. Only 2 types of mutation sites in the P4HB and CRTAP genes have been reported.

Last Updated: 31 Dec 1969

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[Co-occurrence of Carpenter syndrome and double outlet right ventricle].
 

Author(s): Osman Güvenç, Derya Çimen, Derya Arslan, İbrahim Güler

Journal: Turk Kardiyol Dern Ars. 2017 Jul;45(5):454-457.

 

Carpenter syndrome (Acrocephalopolysyndactyly type 2, OMIM 201000) is a rarely seen autosomal recessive disorder. In addition to abnormalities such as acrocephaly, craniosynostosis, facial asymmetry, polydactyly and syndactyly, obesity, hypogonadism, mental retardation, and corneal ...

Last Updated: 31 Dec 1969

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Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
 

Author(s): Frank Rauch, Somayyeh Fahiminiya, Jacek Majewski, Jian Carrot-Zhang, Sergei Boudko, Francis Glorieux, John S Mort, Hans-Peter Bächinger, Pierre Moffatt

Journal: Am. J. Hum. Genet.. 2015 Mar;96(3):425-31.

 

Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. To identify the cause of Cole-Carpenter syndrome in the two individuals whose clinical results ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Carpenter Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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