Brachydactyly type D

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Classification according to ICD-10
Q71.8 Other reduction defects of the upper extremity (s)
ICD-10 online (WHO version 2019)
Brachydactyly type D, unilateral
Brachydactyly type D

The brachydactyly type D (also Brachymegalodactylismus ) is the most common form of brachydactyly , and refers to a congenital malformation of skeleton that clinically , thick with short thumb and wide nail bed is clear. The big toe can also be shortened and thickened. The distal phalanx of affected thumbs is usually between 50 and 66 percent of the length of unaffected thumbs. The first description of this type comes from the year 1928 by O. Thomsen.

distribution

The inheritance is autosomal dominant .

root cause

Of the disease are at least partially mutations in HOXD13 - gene on chromosome 2 gene locus q31.1 based erfrühtes by rounding the Daumenendstücks ( epiphysis ossis ) with this for finger development and growth ( digitus manus is connected) central gene.

Changes on chromosome 7 at p15 were also found.

literature

  • NH Robin, J. Hurvitz, ML Warman, S. Morrison: Clinical and molecular studies of brachydactyly type D. In: American journal of medical genetics. Vol. 85, No. 4, August 1999, pp. 413-418, PMID 10398270 .
  • RM Goodman, A. Feinstein, M. Hertz: Stub thumbs revisited in Israel. In: Journal of medical genetics. Vol. 21, No. 6, December 1984, pp. 460-462, PMID 6512836 , PMC 1049348 (free full text).
  • RM Stecher: The physical characteristics and heredity of short thumbs. In: Acta genetica et statistica medica. Vol. 7, No. 1, 1957, pp. 216-222, PMID 13469150 .
  • LS Wildervanck: . In: Nederlands tijdschrift voor geneeskunde. Vol. 99, No. 29, July 1955, pp. 2137-2141, PMID 13253723 .

Individual evidence

  1. ↑ O. Thomsen: Hereditary growth anomaly of the thumb. In: Hereditas Vol. 10, 1928, pp. 261-273.
  2. ^ E. Gray, VK Hurt: Inheritance of brachydactyly type D. In: The Journal of heredity. Vol. 75, No. 4, 1984 Jul-Aug, pp. 297-299, PMID 6747264 .
  3. ↑ a b Brachydactyly, type D.  In: Online Mendelian Inheritance in Man . (English).
  4. ↑ KD Williams, J. Blangero, J. Subedi, B. Jha, T. Dyer, JL Vandeberg, B. Towne, S. Williams-Blangero: Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in eastern Nepal. In: American journal of human biology: the official journal of the Human Biology Council. Vol. 25, No. 6, 2013 Nov-Dec, pp. 743-750, doi: 10.1002 / ajhb.22441 , PMID 24022874 , PMC 3968259 (free full text).

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