Brachydactyly

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Classification according to ICD-10
Q71.8 Other reduction defects of the upper extremity (s)
Q72.8 Other reduction defects of the lower extremity (s)
Q73.8 Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

Brachydactyly (from ancient Greek βραχύς brachýs 'short' and δάκτυλος dáktylos 'finger') is the medical term for the hereditary malformation of the limbs ( dysmelia ) of short fingers (common name ), a shortening of one or more fingers or toes .

In the respective family there are different hereditary forms with very similar characteristics. Some forms of short fingers are very rare. Type A3 (only the little finger affected) is most common, with a frequency in the various populations between 3.4% and 21%. A particular incidence of 21% was found in Japanese school children. Type D is also found relatively frequently (only the end phalanx of the thumb affected), with a frequency in the various populations between 0.41% and 4.0%. Shortening often occurs laterally symmetrically , sometimes entire phalanges are missing. The autosomal dominant inheritance in humans has been demonstrated using a special form. It is believed that autosomal dominant inheritance applies to all types of short fingers.

A distinction is made between several types with various other peculiarities in the area of ​​the finger or toe phalanx, as well as isolated (= sole) occurrence or in combination with malformations of other organs . Other malformations of the fingers or toes are polydactyly , oligodactyly , syndactyly, and polysyndactyly .

Overview of brachydactyly types

The various forms of brachydactyly can be classified according to the following scheme.

Type OMIM Gene locus description
Type A1, BDA1 [1] 5p13.3-p13.2, 2q33-q35 Brachydactyly type A1 or Farabee type of brachydactyly.
Type A2, BDA2 [2] 20q11.2, 4q23-q24 Brachydactyly type A2, brachymesophalangia II or brachydactyly of the Mohr-Wriedt type .
Type A3, BDA3 [3] Brachydyctalia type A3, brachymesophalangia V or brachydactyly-clinodactyly, only little finger affected
Type A4, BDA4 [4] Brachydactyly type A4 , brachymesophalangia II and V or brachydactyly of the Temtamy type
Type A5, BDA5 [5] Brachydactyly type A5
Type A6, BDA6 [6] Brachydactyly type A6 or Osebold-Remondini syndrome .
Type A7, BDA7 Brachydactyly type A7 or type Smorgasbord .
Type B, BDB (or BDB1) [7] 9q22 Brachydactyly type B.
Type C, BDC [8th] 20q11.2 Brachydactyly type C or Haws-type brachydactyly
Type D, BDD [9] 2q31-q32 Brachydactyly type D , most common form, only shortening of the thumb terminal
Type E, BDE [10] 2q31-q32 Brachydactyly type E, shortening of a metatarsal bone as brachymetatarsia or of a metacarpal bone as brachymetacarpy , can be associated with pseudohypoparathyroidism type 1A or type 1B.
Type B and E [11] 9q22, 2q31-q32 Brachydactyly combined types B and E, Ballard syndrome or Pitt-Williams brachydactyly
Type A1B, BDA1B [12] 5p13.3-p13.2 Brachydactyly type A1, B.

Brachydactyly type D as the most common form

Brachydactyly type D, unilateral

As brachydactyly type D , shortening the last thumb member and the fingernail is called. This form of short fingers often occurs on both sides, but in many cases only occurs on one side. In many cases the big toe is also shortened. Brachydactyly type D has a probability of 0.41% to 4.0% depending on the population. A reduced penetrance (around 62%) can be observed in male carriers of the genetic defect .

It is not known whether this form of the anomaly of the thumb was already described in ancient times . It appears relatively late in literature. The name brachydactyly probably goes back to Hector Louis François Leboucq in 1896 . Pfitzner founded the area of brachyphalangia in 1898. Another name for the genetic defect goes back to JK Breitenbecher in 1923.

Other names are: Brachymegalodactylism (Hefner 1924) and Ossificatio praecox hereditaria (O. Thomsen 1927). Heinrich Hoffmann (senior physician at the University of Tübingen's Dermatology Clinic) referred to this anomaly as hereditary piston thumb in 1924 and as brachyphalangia in 1928 , although R. Pol used the term brachydactyly as early as 1921 .

Brachydactyly type A3

Brachydactyly type A3 (right)

The type A3 also occurs frequently.

In the context of syndromes

In some syndromes, brachydactyly can be one of several characteristics.

Individual evidence

  1. ^ Wilhelm Gemoll : Greek-German school and hand dictionary . G. Freytag Verlag / Hölder-Pichler-Tempsky, Munich / Vienna 1965.
  2. ↑ Brachydactyly. In: Orphanet J Rare Dis. 2008; 3, p. 15. PMC 2441618 (free full text)
  3. ↑ See image archive link ( memento of the original from January 15, 2014 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. @1@ 2Template: Webachiv / IABot / salerno.uni-muenster.de
  4. ^ SA Meiselman, M. Berkenstadt, T. Ben-Ami, RM Goodman: Brachydactyly type A-7 (Smorgasbord): a new entity . In: Clin. Genet. tape 35 , no. 4 , 1989, pp. 261-267 , PMID 2714013 .
  5. ↑ Samia A. Temtamy, Mona S. Aglan: Brachydactyly. In: Orphanet Journal of Rare Diseases. Volume 3, June 13, 2008. PMID 18554391 , PMC 2441618 (free full text)
  6. ↑ Elmer Gray, Valina K. Hurt, Inheritance of brachydactyly type D . In: J. Hered. (1984) 75 (4), pp. 297-299.
  7. ↑ omim.org
  8. ↑ 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 .

literature

  • Samia A. Temtamy, Mona S. Aglan: Brachydactyly. In: Orphanet Journal of Rare Diseases. Volume 3, June 13, 2008. PMID 18554391 , PMC 2441618 (free full text) p. 15.
  • AK Martini: Congenital Malformations. Cape. 6: Hand malformations. Thieme, 2003. online (PDF; 3.2 MB)
  • D. Johnson et al .: Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. In: American Journal of Human Genetics . Volume 72, 2003, pp. 984-997.
  • NH Robin et al: Clinical and molecular studies of brachydactyly type D. In: American Journal of Medical Genetics . Volume 85, 1999, pp. 413-418.
  • E. Gray, VK Hurt: Inheritance of brachydactyly type D. In: Journal of Heredity . Volume 75, 1984, pp. 297-299.
  • RM Goodman, A. Adam, C. Sheba: A genetic study of stub thumbs among various ethnic groups in Israel. In: Journal of Medical Genetics . Volume 2, 1965, pp. 116-121.
  • Leonard P. Sayles, Joseph W. Jailer: Four Generations Of Short Thumbs. In: Journal of Heredity. Volume 25, 1934, pp. 377-378.
  • O. Thomsen: Hereditary growth anomaly of the thumb. In: Hereditas. Volume 10, 1928, pp. 261-273.
  • Heinrich Hoffmann: On the brachyphalangia of the thumb. In: Clinical weekly . Volume 7, Issue 45, 1928, doi : 10.1007 / BF01738956
  • RA Hefner: Inherited abnormalities of the fingers. II. Short thumbs (brachymegalodactylism). In: Journal of Heredity. Volume 15, 1924, pp. 433-440.
  • JK Breitenbecher: Hereditary shortness of thumbs. In: Journal of Heredidy. Volume 14, 1923, pp. 15-21. on-line
  • R. Pol: Brachydactyly, clinodactyly, hyperphalangia and their basics: Form and origin of the varieties, anomalies and deformities of the hand and foot that usually appear under the image of brachydactyly. In: Virchow's archive . Volume 229, 1921, pp. 388-530.