U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Camptodactyly of fingers(CAMPD1)

MedGen UID:
416550
Concept ID:
C2751430
Disease or Syndrome
Synonyms: Camptodactyly 1; CAMPTODACTYLY AND KNUCKLE PADS
 
Monarch Initiative: MONDO:0007250
OMIM®: 114200
Orphanet: ORPHA295016

Definition

Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by Malik et al., 2008). [from OMIM]

Clinical features

From HPO
Increased urinary taurine
MedGen UID:
812777
Concept ID:
C3806447
Finding
Increased concentration of taurine in the urine.
Knee dislocation
MedGen UID:
102364
Concept ID:
C0159970
Injury or Poisoning
Slippage of the FEMUR off the TIBIA.
Joint subluxation
MedGen UID:
83065
Concept ID:
C0332768
Injury or Poisoning
A partial dislocation of a joint.
Camptodactyly of finger
MedGen UID:
98041
Concept ID:
C0409348
Finding
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCamptodactyly of fingers

Professional guidelines

PubMed

Corain M, Lando M, Pantaleoni F, Pozza P, Giardini M, Adani R
J Hand Surg Asian Pac Vol 2022 Apr;27(2):233-241. Epub 2022 Mar 31 doi: 10.1142/S2424835522500308. PMID: 35404199
Miranda BH, Talwar C, Horwitz MD, Smith PJ
J Plast Reconstr Aesthet Surg 2022 Jun;75(6):1907-1915. Epub 2022 Jan 22 doi: 10.1016/j.bjps.2022.01.020. PMID: 35153164
Evans BT, Waters PM, Bae DS
J Pediatr Orthop 2017 Jul/Aug;37(5):e317-e320. doi: 10.1097/BPO.0000000000000967. PMID: 28277466

Recent clinical studies

Etiology

Corain M, Lando M, Pantaleoni F, Pozza P, Giardini M, Adani R
J Hand Surg Asian Pac Vol 2022 Apr;27(2):233-241. Epub 2022 Mar 31 doi: 10.1142/S2424835522500308. PMID: 35404199
Evans BT, Waters PM, Bae DS
J Pediatr Orthop 2017 Jul/Aug;37(5):e317-e320. doi: 10.1097/BPO.0000000000000967. PMID: 28277466
Netscher DT, Staines KG, Hamilton KL
J Hand Ther 2015 Apr-Jun;28(2):167-74; quiz 175. Epub 2014 Dec 13 doi: 10.1016/j.jht.2014.12.004. PMID: 25817746
Hamilton KL, Netscher DT
Plast Reconstr Surg 2015 Mar;135(3):568e-576e. doi: 10.1097/PRS.0000000000000958. PMID: 25719721
Siegert JJ, Cooney WP, Dobyns JH
J Hand Surg Br 1990 May;15(2):181-9. doi: 10.1016/0266-7681_90_90122-k. PMID: 2366018

Diagnosis

Yannascoli SM, Goldfarb CA
Hand Clin 2018 May;34(2):237-249. doi: 10.1016/j.hcl.2017.12.013. PMID: 29625643
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Urban M, Rutowski R, Urban J, Mazurek P, Kuliński S, Gosk J
Adv Clin Exp Med 2014 May-Jun;23(3):399-402. doi: 10.17219/acem/37132. PMID: 24979511
Ty JM, James MA
Hand Clin 2009 May;25(2):195-213. doi: 10.1016/j.hcl.2008.12.003. PMID: 19380060
Tunçbilek E, Alanay Y
Orphanet J Rare Dis 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. PMID: 16740166Free PMC Article

Therapy

Urban M, Rutowski R, Urban J, Mazurek P, Kuliński S, Gosk J
Adv Clin Exp Med 2014 May-Jun;23(3):399-402. doi: 10.17219/acem/37132. PMID: 24979511
Bernardi P, Graziadio C, Rosa RF, Pfeil JN, Zen PR, Paskulin GA
Sao Paulo Med J 2010;128(2):99-101. doi: 10.1590/s1516-31802010000200011. PMID: 20676578Free PMC Article
Lavi E, Montone KT, Rorke LB, Kliman HJ
Neurology 1991 Sep;41(9):1467-8. doi: 10.1212/wnl.41.9.1467. PMID: 1891100

Prognosis

Soldado F, Nguyen TQ, Rojas-Neira J, Rodriguez-Ostuni D, Cherqaoui A, Díaz-Gallardo P
J Pediatr Orthop 2024 Oct 1;44(9):567-571. Epub 2024 Jul 11 doi: 10.1097/BPO.0000000000002764. PMID: 38989657
Hamilton KL, Netscher DT
Plast Reconstr Surg 2015 Mar;135(3):568e-576e. doi: 10.1097/PRS.0000000000000958. PMID: 25719721
Malik S, Afzal M, Gul S, Wahab A, Ahmad M
Am J Med Genet A 2010 Sep;152A(9):2313-7. doi: 10.1002/ajmg.a.33552. PMID: 20683984
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A
Radiographics 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. PMID: 16702456
Viljoen D
J Med Genet 1994 Aug;31(8):640-3. doi: 10.1136/jmg.31.8.640. PMID: 7815423Free PMC Article

Clinical prediction guides

Evans BT, Waters PM, Bae DS
J Pediatr Orthop 2017 Jul/Aug;37(5):e317-e320. doi: 10.1097/BPO.0000000000000967. PMID: 28277466
Wijerathne BT, Meier RJ, Agampodi SB
J Med Case Rep 2016 Sep 20;10(1):258. doi: 10.1186/s13256-016-1048-7. PMID: 27650795Free PMC Article
Urban M, Rutowski R, Urban J, Mazurek P, Kuliński S, Gosk J
Adv Clin Exp Med 2014 May-Jun;23(3):399-402. doi: 10.17219/acem/37132. PMID: 24979511
Tunçbilek E, Alanay Y
Orphanet J Rare Dis 2006 Jun 1;1:20. doi: 10.1186/1750-1172-1-20. PMID: 16740166Free PMC Article
McFarlane RM, Classen DA, Porte AM, Botz JS
J Hand Surg Am 1992 Jan;17(1):35-44. doi: 10.1016/0363-5023(92)90110-b. PMID: 1538110

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.

    Recent activity

    • Camptodactyly of fingers
      Camptodactyly of fingers
      MedGen
    • Receptor, Muscarinic M3
      Receptor, Muscarinic M3
      A subclass of muscarinic receptor that mediates cholinergic-induced contraction in a variety of SMOOTH MUSCLES.<br/>Year introduced: 2004
      MeSH
    • Receptors, Purinergic P2Y1
      Receptors, Purinergic P2Y1
      A subclass of purinergic P2Y receptors that have a preference for ATP and ADP. The activated P2Y1 receptor signals through the G-PROTEIN-coupled activation of PHOSPHOLIPASE C ...<br/>Year introduced: 2011
      MeSH

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...