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Brachydactyly-long thumb syndrome

MedGen UID:
350609
Concept ID:
C1862169
Disease or Syndrome
Synonym: Brachydactyly long thumb type
SNOMED CT: Brachydactyly long thumb type (733454004); Long thumb brachydactyly syndrome (733454004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0007212
OMIM®: 112430
Orphanet: ORPHA2946

Definition

A very rare autosomal dominant heart-hand syndrome with characteristics of bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. It has been described in four family members from three generations, with no new cases having been reported since 1981. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBrachydactyly-long thumb syndrome
Follow this link to review classifications for Brachydactyly-long thumb syndrome in Orphanet.

Professional guidelines

PubMed

Prasasya R, Grotheer KV, Siracusa LD, Bartolomei MS
Hum Mol Genet 2020 Sep 30;29(R1):R107-R116. doi: 10.1093/hmg/ddaa133. PMID: 32592473Free PMC Article
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090
Koopman FS, Beelen A, Gilhus NE, de Visser M, Nollet F
Cochrane Database Syst Rev 2015 May 18;(5):CD007818. doi: 10.1002/14651858.CD007818.pub3. PMID: 25984923

Recent clinical studies

Etiology

Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M
Ital J Dermatol Venerol 2023 Aug;158(4):316-320. Epub 2023 Jun 7 doi: 10.23736/S2784-8671.23.07547-3. PMID: 37282850
Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Soubeyrand M, Melhem R, Protais M, Artuso M, Crézé M
Hand Surg Rehabil 2020 Feb;39(1):2-18. Epub 2019 Dec 6 doi: 10.1016/j.hansur.2019.10.197. PMID: 31816428
Gish D, Romero BJ
J Fam Pract 2017 May;66(5):E7-E9. PMID: 28459896
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065
Wood VE
Clin Orthop Relat Res 1985 May;(195):7-25. PMID: 2983921

Therapy

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Vasiliadis AV, Itsiopoulos I
J Hand Surg Asian Pac Vol 2017 Jun;22(2):188-193. doi: 10.1142/S021881041750023X. PMID: 28506168
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090
Koopman FS, Beelen A, Gilhus NE, de Visser M, Nollet F
Cochrane Database Syst Rev 2015 May 18;(5):CD007818. doi: 10.1002/14651858.CD007818.pub3. PMID: 25984923

Prognosis

Soubeyrand M, Melhem R, Protais M, Artuso M, Crézé M
Hand Surg Rehabil 2020 Feb;39(1):2-18. Epub 2019 Dec 6 doi: 10.1016/j.hansur.2019.10.197. PMID: 31816428
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Clinical prediction guides

Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM
Mol Genet Genomic Med 2021 Oct;9(10):e1791. Epub 2021 Aug 24 doi: 10.1002/mgg3.1791. PMID: 34427995Free PMC Article
Potuijt JWP, Galjaard RH, van der Spek PJ, van Nieuwenhoven CA, Ahituv N, Oberg KC, Hovius SER
J Hand Surg Eur Vol 2019 Jan;44(1):59-68. Epub 2018 Oct 14 doi: 10.1177/1753193418803521. PMID: 30318985Free PMC Article
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555

Recent systematic reviews

Karjalainen TV, Lusa V, Page MJ, O'Connor D, Massy-Westropp N, Peters SE
Cochrane Database Syst Rev 2023 Feb 27;2(2):CD010003. doi: 10.1002/14651858.CD010003.pub2. PMID: 36848651Free PMC Article
Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB
Int J Environ Res Public Health 2021 Jan 28;18(3) doi: 10.3390/ijerph18031162. PMID: 33525609Free PMC Article
Rymer B, Thomas PB
J Hand Surg Eur Vol 2016 Jul;41(6):632-7. Epub 2016 Jan 14 doi: 10.1177/1753193415625605. PMID: 26768219
Koopman FS, Beelen A, Gilhus NE, de Visser M, Nollet F
Cochrane Database Syst Rev 2015 May 18;(5):CD007818. doi: 10.1002/14651858.CD007818.pub3. PMID: 25984923
Koopman FS, Uegaki K, Gilhus NE, Beelen A, de Visser M, Nollet F
Cochrane Database Syst Rev 2011 Feb 16;(2):CD007818. doi: 10.1002/14651858.CD007818.pub2. PMID: 21328301

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