U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Shortening of all proximal phalanges of the fingers

MedGen UID:
870637
Concept ID:
C4025089
Anatomical Abnormality
Synonym: Shortening of all innermost bones of the fingers
 
HPO: HP:0006144

Definition

Congenital hypoplasia of proximal phalanx of finger or all fingers. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShortening of all proximal phalanges of the fingers

Conditions with this feature

Spondyloperipheral dysplasia
MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.
Acromesomelic dysplasia 2C, Hunter-Thompson type
MedGen UID:
419681
Concept ID:
C2930970
Disease or Syndrome
Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875).

Professional guidelines

PubMed

Held M, Jordaan P, Laubscher M, Singer M, Solomons M
Hand Surg 2013;18(2):229-34. doi: 10.1142/S0218810413500287. PMID: 24164128
Reyes FA, Latta LL
Clin Orthop Relat Res 1987 Jan;(214):23-30. PMID: 3791748

Recent clinical studies

Etiology

Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Held M, Jordaan P, Laubscher M, Singer M, Solomons M
Hand Surg 2013;18(2):229-34. doi: 10.1142/S0218810413500287. PMID: 24164128
Hosny GA, Kandel WA
J Trauma Acute Care Surg 2012 Jun;72(6):1676-80. doi: 10.1097/TA.0b013e31824b177a. PMID: 22695440
Tonkin MA, Deva AK, Filan SL
J Hand Surg Br 2005 Oct;30(5):452-8. doi: 10.1016/j.jhsb.2005.06.001. PMID: 16029918
Reyes FA, Latta LL
Clin Orthop Relat Res 1987 Jan;(214):23-30. PMID: 3791748

Diagnosis

Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Su W, Shi X, Lin M, Huang C, Wang L, Song H, Zhuang Y, Zhang H, Li N, Li X
BMC Med Genet 2018 Dec 12;19(1):211. doi: 10.1186/s12881-018-0732-4. PMID: 30541476Free PMC Article
Ünal MB, Cansü E, Parmaksizoğlu F
J Hand Surg Am 2011 Apr;36(4):661-4. doi: 10.1016/j.jhsa.2010.12.024. PMID: 21411238
Cates HE, Burgess RC
J Hand Surg Am 1991 Jan;16(1):127-32. doi: 10.1016/s0363-5023(10)80027-9. PMID: 1995669
Gewanter H, Baum J
J Rheumatol 1985 Feb;12(1):150-3. PMID: 3981502

Therapy

Nikci V, Effiong L, Freibott CE, Gardner TR, Strauch RJ
Hand (N Y) 2023 Mar;18(2):282-287. Epub 2021 Jun 9 doi: 10.1177/15589447211017224. PMID: 34105379Free PMC Article
Collins FS, Mahoney MJ
J Pediatr 1983 Apr;102(4):620-1. doi: 10.1016/s0022-3476(83)80204-2. PMID: 6572713

Prognosis

Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Held M, Jordaan P, Laubscher M, Singer M, Solomons M
Hand Surg 2013;18(2):229-34. doi: 10.1142/S0218810413500287. PMID: 24164128
Hosny GA, Kandel WA
J Trauma Acute Care Surg 2012 Jun;72(6):1676-80. doi: 10.1097/TA.0b013e31824b177a. PMID: 22695440
Tonkin MA, Deva AK, Filan SL
J Hand Surg Br 2005 Oct;30(5):452-8. doi: 10.1016/j.jhsb.2005.06.001. PMID: 16029918
Buck-Gramcko D, Pereira JA
Ann Chir Main Memb Super 1990;9(2):107-18. doi: 10.1016/s0753-9053(05)80487-9. PMID: 1695513

Clinical prediction guides

Komura S, Matsumoto K, Hirakawa A, Akiyama H
J Hand Surg Am 2021 Sep;46(9):815.e1-815.e12. Epub 2021 Feb 26 doi: 10.1016/j.jhsa.2020.12.011. PMID: 33642092
Su W, Shi X, Lin M, Huang C, Wang L, Song H, Zhuang Y, Zhang H, Li N, Li X
BMC Med Genet 2018 Dec 12;19(1):211. doi: 10.1186/s12881-018-0732-4. PMID: 30541476Free PMC Article
Li WJ, Tian W, Tian GL, Chen SL, Zhang CQ, Xue YH, Li ZZ, Zhu Y
Chin Med J (Engl) 2009 Nov 5;122(21):2616-9. PMID: 19951580
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894
Vahey JW, Wegner DA, Hastings H 3rd
J Hand Surg Am 1998 Jul;23(4):673-81. doi: 10.1016/s0363-5023(98)80054-3. PMID: 9708382

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...