U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

RAB23-related Carpenter syndrome(CRPT1)

MedGen UID:
1644017
Concept ID:
C4551510
Disease or Syndrome
Synonyms: ACPS 2; ACPS II; Acrocephalopolysyndactyly type 2; Acrocephalopolysyndactyly Type II; Carpenter syndrome 1
 
RAB23 (6p12.1-11.2)
 
Monarch Initiative: MONDO:0008710
OMIM®: 201000

Definition

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 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). [from OMIM]

Clinical features

From HPO

Professional guidelines

PubMed

Rubio EI, Blask A, Bulas DI
Pediatr Radiol 2016 May;46(5):709-18. Epub 2016 Feb 25 doi: 10.1007/s00247-016-3550-x. PMID: 26914936

Recent clinical studies

Etiology

Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO
Hum Mutat 2011 Apr;32(4):E2069-78. Epub 2011 Feb 8 doi: 10.1002/humu.21457. PMID: 21412941Free PMC Article
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Perlyn CA, Marsh JL
Plast Reconstr Surg 2008 Mar;121(3):971-981. doi: 10.1097/01.prs.0000299284.92862.6c. PMID: 18317146

Diagnosis

Khairat R, Elhossini R, Sobreira N, Wohler E, Otaify G, Mohamed AM, Abdel Raouf ER, Sayed I, Aglan M, Ismail S, Temtamy SA
Eur J Med Genet 2022 Jan;65(1):104377. Epub 2021 Nov 5 doi: 10.1016/j.ejmg.2021.104377. PMID: 34748996
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Kadakia S, Helman SN, Healy NJ, Saman M, Wood-Smith D
J Craniofac Surg 2014 Sep;25(5):1653-7. doi: 10.1097/SCS.0000000000001121. PMID: 25162549
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article
Cohen MM Jr
Am J Med Genet Suppl 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990

Therapy

Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. PMID: 28593893
Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C
Am J Med Genet A 2017 May;173(5):1358-1363. Epub 2017 Mar 27 doi: 10.1002/ajmg.a.38155. PMID: 28345801

Prognosis

Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM
Eur J Hum Genet 2024 Jul;32(7):864-870. Epub 2024 May 17 doi: 10.1038/s41431-024-01624-9. PMID: 38760421Free PMC Article
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Hidestrand P, Vasconez H, Cottrill C
J Craniofac Surg 2009 Jan;20(1):254-6. doi: 10.1097/SCS.0b013e318184357a. PMID: 19165041
Biesecker LG
Orphanet J Rare Dis 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. PMID: 18435847Free PMC Article

Clinical prediction guides

Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM
Eur J Hum Genet 2024 Jul;32(7):864-870. Epub 2024 May 17 doi: 10.1038/s41431-024-01624-9. PMID: 38760421Free PMC Article
Chen S, Venkatesan A, Lin YQ, Xie J, Neely G, Banerjee S, Bhat MA
J Neurosci 2022 Sep 14;42(37):7016-7030. Epub 2022 Aug 9 doi: 10.1523/JNEUROSCI.0442-22.2022. PMID: 35944997Free PMC Article
Haye D, Collet C, Sembely-Taveau C, Haddad G, Denis C, Soulé N, Suc AL, Listrat A, Toutain A
Am J Med Genet A 2014 Nov;164A(11):2926-30. Epub 2014 Aug 28 doi: 10.1002/ajmg.a.36726. PMID: 25168863
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L
Hormones (Athens) 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. PMID: 23624130
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO
Hum Mutat 2011 Apr;32(4):E2069-78. Epub 2011 Feb 8 doi: 10.1002/humu.21457. PMID: 21412941Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.