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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

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
Management of children with thrombocytopenia-absent radius syndrome: an institutional experience.
Coccia P, Ruggiero A, Mastrangelo S, Attinà G, Scalzone M, Pittiruti M, Zampino G, Maurizi P, Riccardi R
J Paediatr Child Health 2012 Feb;48(2):166-9. Epub 2011 Jul 19 doi: 10.1111/j.1440-1754.2011.02069.x. PMID: 21771154

Recent clinical studies

Etiology

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
Treatment of congenital clasped thumb in arthrogryposis.
Abdel-Ghani H, Mahmoud M, Shaheen A, Abdel-Wahed M
J Hand Surg Eur Vol 2017 Oct;42(8):794-798. Epub 2017 Jun 12 doi: 10.1177/1753193417712863. PMID: 28602132
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
Green fingernail.
Gish D, Romero BJ
J Fam Pract 2017 May;66(5):E7-E9. PMID: 28459896
Thrombocytopenia-absent radius syndrome.
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274
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
Triphalangeal thumb.
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Therapy

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
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
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
Pachyonychia congenita tarda.
Hannaford RS, Stapleton K
Australas J Dermatol 2000 Aug;41(3):175-7. doi: 10.1046/j.1440-0960.2000.00425.x. PMID: 10954990

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
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
Scaphotrapezial trapezoidal arthrosis.
Crosby EB, Linscheid RL, Dobyns JH
J Hand Surg Am 1978 May;3(3):223-34. doi: 10.1016/s0363-5023(78)80086-0. PMID: 659818

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
Opponensplasty using the extensor indicis proprius tendon for severe carpal tunnel syndrome in 40 patients.
Matsuki H, Nakatsuchi Y, Momose T
J Hand Surg Eur Vol 2022 Apr;47(4):353-358. Epub 2021 Oct 20 doi: 10.1177/17531934211045957. PMID: 34670436
Prenatal diagnosis of fetal adducted thumbs.
Gilboa Y, Berkenstadt M, Leytes S, Achiron R, Perlman S
J Matern Fetal Neonatal Med 2018 May;31(10):1285-1289. Epub 2017 Apr 20 doi: 10.1080/14767058.2017.1315096. PMID: 28372511
Management of Atraumatic Posterior Interosseous Nerve Palsy.
Sigamoney KV, Rashid A, Ng CY
J Hand Surg Am 2017 Oct;42(10):826-830. doi: 10.1016/j.jhsa.2017.07.026. PMID: 28969808
Scaphotrapezial trapezoidal arthrosis.
Crosby EB, Linscheid RL, Dobyns JH
J Hand Surg Am 1978 May;3(3):223-34. doi: 10.1016/s0363-5023(78)80086-0. PMID: 659818

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
Postoperative follow-up time and justification in prospective hand surgery research: a systematic review.
Hooper RC, Nasser JS, Huetteman HE, Mack SJ, Chung KC
J Hand Surg Eur Vol 2020 Nov;45(9):899-903. Epub 2020 Jun 15 doi: 10.1177/1753193420931478. PMID: 32539576
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919
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;2015(5):CD007818. doi: 10.1002/14651858.CD007818.pub3. PMID: 25984923Free PMC Article

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