U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S
Ital J Pediatr 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. PMID: 25599811Free PMC Article

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
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
Splinting for carpal tunnel syndrome.
Page MJ, Massy-Westropp N, O'Connor D, Pitt V
Cochrane Database Syst Rev 2012 Jul 11;2012(7):CD010003. doi: 10.1002/14651858.CD010003. PMID: 22786532Free 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
Clinical anatomy of the hand.
Vargas A, Chiapas-Gasca K, Hernández-Díaz C, Canoso JJ, Saavedra MÁ, Navarro-Zarza JE, Villaseñor-Ovies P, Kalish RA
Reumatol Clin 2012 Dec-2013 Jan;8 Suppl 2:25-32. Epub 2012 Dec 6 doi: 10.1016/j.reuma.2012.10.004. PMID: 23219083
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
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
Splinting for carpal tunnel syndrome.
Page MJ, Massy-Westropp N, O'Connor D, Pitt V
Cochrane Database Syst Rev 2012 Jul 11;2012(7):CD010003. doi: 10.1002/14651858.CD010003. PMID: 22786532Free PMC Article

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
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
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM
Genet Med 2020 Aug;22(8):1338-1347. Epub 2020 May 19 doi: 10.1038/s41436-020-0811-8. PMID: 32424177Free PMC Article
The Effectiveness of Manual Therapy Versus Surgery on Self-reported Function, Cervical Range of Motion, and Pinch Grip Force in Carpal Tunnel Syndrome: A Randomized Clinical Trial.
Fernández-de-Las-Peñas C, Cleland J, Palacios-Ceña M, Fuensalida-Novo S, Pareja JA, Alonso-Blanco C
J Orthop Sports Phys Ther 2017 Mar;47(3):151-161. Epub 2017 Feb 3 doi: 10.2519/jospt.2017.7090. PMID: 28158963
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
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
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
Splinting for carpal tunnel syndrome.
Page MJ, Massy-Westropp N, O'Connor D, Pitt V
Cochrane Database Syst Rev 2012 Jul 11;2012(7):CD010003. doi: 10.1002/14651858.CD010003. PMID: 22786532Free PMC Article
Treatment for postpolio syndrome.
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

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

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...