Carpenter syndrome, also called acrocephalopolysyndactyly type II,[1] is an extremely rare autosomal recessive[2] congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.[2] Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
It was first characterized in 1909, and is named for George Alfred Carpenter.[3][4]
^Online Mendelian Inheritance in Man (OMIM): 201000
^ abPerlyn, Ca; Marsh, Jl (March 1909). "Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings". Plastic and Reconstructive Surgery. 121 (3): 971–81. doi:10.1097/01.prs.0000299284.92862.6c. PMID 18317146. S2CID 21493967.
^Carpenter G (1909). "Case of acrocephaly with other congenital malformations". Proceedings of the Royal Society of Medicine. 2 (Sect Study Dis Child): 45–53, 199–201. doi:10.1177/003591570900201418. PMC 2047261. PMID 19974019.
^Beighton, Peter; Beighton, Greta (2012-12-06). The Man Behind the Syndrome. Springer Science & Business Media. p. 25. ISBN 9781447114154. Retrieved 7 August 2018.
and 26 Related for: Carpenter syndrome information
Carpentersyndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial...
patients with recessive forms of OI include chaperone HSP47 (Cole-Carpentersyndrome) and FKBP65. Mutations in these chaperones result in an improper folding...
association between congenital heart disease and Carpentersyndrome and the link between Carpentersyndrome and brachydactyly. Nomograms for normal values...
without muscular or ocular involvement Coffin-Siris syndrome Cohen-Gibson syndrome Cole-Carpentersyndrome Congenital disorder of glycosylation, type Iw, autosomal...
these syndromes (it is present in up to 18% of the normal population). Down syndrome Turner syndrome Aarskog syndromeCarpentersyndrome Seckel syndrome Cornelia...
syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter...
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
George Alfred Carpenter (1859–1910) was an English physician and paediatrician. Carpentersyndrome is named for him. Born at Lambeth, on 25 December 1859...
Prader–Willi syndrome, Bardet–Biedl syndrome, Alström syndrome, Cohen syndrome, and Carpentersyndrome. Excess adipose tissue can lead to medical problems;...
significant. These diseases include: acrocallosal syndrome, carpentersyndrome, and Gorlin syndrome. The main treatment is surgery to fix the abnormalities...
with the presence of other genetic disorders. It is a hallmark of Carpenter'ssyndrome, an autosomal recessive disorder that is also associated with craniosynostosis...
Rapunzel syndrome is an extremely rare intestinal condition in humans resulting from ingesting hair (trichophagia). The syndrome is named after the long-haired...
Thoracic outlet syndrome (TOS) is a condition in which there is compression of the nerves, arteries, or veins in the superior thoracic aperture, the passageway...
Global Information
