Symphalangism

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Classification according to ICD-10
Q70.9 Syndactyly, unspecified -

Symphalangia onA

ICD-10 online (WHO version 2019)

The symphalangism or Symphangie (from ancient Greek σύν syn , together 'and φάλαγξ phalanx , Row') is a rare malformation with congenital or acquired fusion of two adjacent phalanges .

In contrast to syndactyly , in which the separation between two fingers or toes is missing or incomplete, in symphalangia there is a bony fusion of two phalanges of a finger or a toe, with the lack of the affected proximal or distal finger or toe joint .

The first description comes from the year 1900 by Harvey Cushing .

distribution

A symphalangia is most often found as an anatomical variant ( standard variant ) on the little toe as a fusion of the middle and end phalanx. The occurrence is given here with 40 - 70% of the population.

Often additional malformations such as shorter metatarsal or metacarpal bones or carpal or tarsal coalition are found.

There is an association with:

Classification

The following diseases can be found for "symphalangism" in the Orphanet or OMIM databases :

  • Sillence syndrome , synonym: symphalangism-brachydactyly syndrome
  • Learman syndrome , synonym: symphalangism with multiple anomalies of the hands and feet
  • Distal symphalangism , synonym: SYM2
  • Proximal symphalangism , synonym: Cushing symphalangia; Cushing-type proximal symphalangia
    • Proximal symphalangism type 1A , synonyms: Strasburger-Hawkins-Eldridge syndrome; Strasburger-Hawkins-Eldridge Hargrave-McKusick syndrome; Symphalangia stapes fixation syndrome; Vesell syndrome
    • Proximal symphalangism type 1B
  • Multiple synostosis syndrome , synonym symphalangia - brachydactyly . This term can be used to summarize Sillence's syndrome, proximal symphalangism types 1A and 1B

There is also the

  • Brachydactyly type B , synonym: symphalangism and hypophalangia; apical dystrophy; Brachydactyly with joint aplasia

Clinical manifestations

Clinical criteria are:

  • Joint stiffness, restricted mobility, missing skin folds over the joint aplasia

Often it is an incidental finding in the X-ray

Depending on the extent of the fusion, a distinction can be made between fibrous , cartilaginous and bony symphalangia.

literature

  • GH Baek, J. Kim, JW Park: Mobilization of Joints of the Hand with Symphalangism. In: Hand clinics. Volume 33, number 3, 08 2017, pp. 551-560, doi: 10.1016 / j.hcl.2017.04.008 , PMID 28673631 (review).
  • H. Chen: Symphalangism. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY, 2015 [1]
  • M. Letts, D. Davidson, P. Beaulé: Symphalangism in children. Case report and review of the literature. In: Clinical orthopedics and related research. Number 366, September 1999, pp. 178-185, PMID 10627733 (review).

Individual evidence

  1. ↑ a b c W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. , 2nd ed., P. 111, 1996, ISBN 3-540-60224-0 .
  2. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X . P. 398
  3. ↑ H. Cushing: Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism). In: Genetics. Volume 1, Number 1, January 1916, pp. 90-106, PMID 17245852 , PMC 1193655 (free full text).
  4. ^ A b T. Nakashima, T. Hojo, K. Suzuki, M. Ijichi: Symphalangism (two phalanges) in the digits of the Japanese foot. In: Annals of anatomy = Anatomischer Anzeiger: official organ of the Anatomische Gesellschaft. Volume 177, Number 3, May 1995, pp. 275-278, doi: 10.1016 / S0940-9602 (11) 80199-8 , PMID 7598223 .
  5. ↑ a b Radiopaedia
  6. ^ Sillence syndrome. In: Orphanet (Rare Disease Database).
  7. ↑ Symphalangism with multiple anomalies of the hands and feet. In: Orphanet (Rare Disease Database).
  8. ^ Symphalangism, distal. In: Orphanet (Rare Disease Database).
  9. ↑ Symphalangism, more proximal. In: Orphanet (Rare Disease Database).
  10. ^ Symphalangism, proximal, 1A.  In: Online Mendelian Inheritance in Man . (English)
  11. ^ Symphalangism, proximal, 1B.  In: Online Mendelian Inheritance in Man . (English)
  12. ↑ Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  13. ↑ Epainassist