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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.
Autosomal dominant inheritance (Orphanet)
 
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

Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Marszałek-Kruk BA, Myśliwiec A, Lipowicz A, Wolański W, Kulesa-Mrowiecka M, Dowgierd K
Genes (Basel) 2023 Dec 24;15(1) doi: 10.3390/genes15010029. PMID: 38254920Free PMC Article
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
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
Carpal Tunnel Syndrome: Diagnosis and Management.
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090

Recent clinical studies

Etiology

Dermatological findings in Rubinstein-Taybi Syndrome.
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
Splinting for carpal tunnel syndrome.
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
Common Hand Conditions: A Review.
Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Diamond-Blackfan anemia.
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
The trisomy 18 syndrome.
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

Anatomy of the median nerve and its clinical applications.
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
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Generalized skeletal abnormalities.
Watt AJ, Chung KC
Hand Clin 2009 May;25(2):265-76. doi: 10.1016/j.hcl.2008.12.008. PMID: 19380065
Radial longitudinal deficiency.
Maschke SD, Seitz W, Lawton J
J Am Acad Orthop Surg 2007 Jan;15(1):41-52. doi: 10.5435/00124635-200701000-00005. PMID: 17213381
Pfeiffer syndrome.
Vogels A, Fryns JP
Orphanet J Rare Dis 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. PMID: 16740155Free PMC Article

Therapy

Splinting for carpal tunnel syndrome.
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
Common Hand Conditions: A Review.
Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Trigger Finger: An Atraumatic Medical Phenomenon.
Vasiliadis AV, Itsiopoulos I
J Hand Surg Asian Pac Vol 2017 Jun;22(2):188-193. doi: 10.1142/S021881041750023X. PMID: 28506168
Carpal Tunnel Syndrome: Diagnosis and Management.
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090
Treatment for postpolio syndrome.
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

Anatomy of the median nerve and its clinical applications.
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
Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T
J Ayub Med Coll Abbottabad 2019 Apr-Jun;31(2):290-292. PMID: 31094135
A multidisciplinary review of triphalangeal thumb.
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
Carpal Tunnel Syndrome: Diagnosis and Management.
Wipperman J, Goerl K
Am Fam Physician 2016 Dec 15;94(12):993-999. PMID: 28075090
The trisomy 18 syndrome.
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

Common Hand Conditions: A Review.
Currie KB, Tadisina KK, Mackinnon SE
JAMA 2022 Jun 28;327(24):2434-2445. doi: 10.1001/jama.2022.8481. PMID: 35762992
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Isidor B, Ebstein F, Hurst A, Vincent M, Bader I, Rudy NL, Cogne B, Mayr J, Brehm A, Bupp C, Warren K, Bacino CA, Gerard A, Ranells JD, Metcalfe KA, van Bever Y, Jiang YH, Mendelssohn BA, Cope H, Rosenfeld JA, Blackburn PR, Goodenberger ML, Kearney HM, Kennedy J, Scurr I, Szczaluba K, Ploski R, de Saint Martin A, Alembik Y, Piton A, Bruel AL, Thauvin-Robinet C, Strong A, Diderich KEM, Bourgeois D, Dahan K, Vignard V, Bonneau D, Colin E, Barth M, Camby C, Baujat G, Briceño I, Gómez A, Deb W, Conrad S, Besnard T, Bézieau S, Krüger E, Küry S, Stankiewicz P
Genet Med 2022 Jan;24(1):179-191. Epub 2021 Nov 30 doi: 10.1016/j.gim.2021.09.005. PMID: 34906456
A multidisciplinary review of triphalangeal thumb.
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
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
Pediatric Thumb Flexion Deformities.
Shreve M, Chu A
Bull Hosp Jt Dis (2013) 2016 Mar;74(1):97-108. PMID: 26977555

Recent systematic reviews

Splinting for carpal tunnel syndrome.
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
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J
Am J Med Genet A 2022 Sep;188(9):2536-2554. Epub 2022 Jun 21 doi: 10.1002/ajmg.a.62867. PMID: 35730128Free PMC Article
Oral Manifestations of Rett Syndrome-A Systematic Review.
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
The Camitz transfer and its modifications: a review.
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
Treatment for postpolio syndrome.
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

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