Metacarpal synostosis

Metacarpal synostosis
Metacarpal synostosis affecting the fourth and fifth metacarpals of a left hand with thumb hypoplasia type V.
SpecialtyMedical genetics
CausesGenetic mutation
Frequencyrare, less than 0.07% of the population is born with this trait
Deaths-

Metacarpal synostosis is a rare congenital difference which is characterized by the fusion of 2 (or, in rare cases, more) metacarpals of the hand, which are usually shortened. It is most commonly seen as a fusion of the 4th and 5th metacarpals. It is a type of non-syndromic syndactyly/synostosis.[1] Autosomal dominant and X-linked recessive inheritance patterns have been reported.[2][3][4][5][6][7][8]

  1. ^ "Metacarpals 4 and 5 fusion - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-09.
  2. ^ "OMIM Entry #309630 - Metacarpal 4-5 Fusion; MF4". omim.org. Retrieved 2022-06-09.
  3. ^ Habighorst LV, Albers P (November 1965). "[Familial synostosis of metacarpi IV and V]". Zeitschrift für Orthopädie und Ihre Grenzgebiete. 100 (4): 521–525. PMID 4223440.
  4. ^ Lonardo F, Della Monica M, Riccardi G, Riccio I, Riccio V, Scarano G (February 2004). "A family with X-linked recessive fusion of metacarpals IV and V". American Journal of Medical Genetics. Part A. 124A (4): 407–410. doi:10.1002/ajmg.a.20382. PMID 14735591. S2CID 9168511.
  5. ^ Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, et al. (September 2013). "Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion". Journal of Medical Genetics. 50 (9): 579–584. doi:10.1136/jmedgenet-2013-101659. PMID 23709756. S2CID 9501794.
  6. ^ Holmes LB, Wolf E, Miettinen OS (September 1972). "Metacarpal 4-5 fusion with X-linked recessive inheritance". American Journal of Human Genetics. 24 (5): 562–568. PMC 1762184. PMID 4538283.
  7. ^ Jones B, Byers H, Watson JS, Newman WG (July 2014). "Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion". Clinical Dysmorphology. 23 (3): 95–97. doi:10.1097/MCD.0000000000000043. PMID 24878828.
  8. ^ Annerén G, Amilon A (August 1994). "X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V". American Journal of Medical Genetics. 52 (2): 248–250. doi:10.1002/ajmg.1320520230. PMID 7802024.