Metacarpal synostosis explained

Metacarpal synostosis
Synonym:-->
Risk:-->
Management:-->
Frequency:rare, 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]

Signs and symptoms

The fusion of two or more metacarpal bones is the characteristic feature of this malformation, however this itself causes more symptoms, such as clinodactyly, shortening of the fused metacarpal bones, and reduced range of mobility of the fingers supported by the metacarpals.[9]

Complications

There are usually no serious health complications associated with this condition, although severe cases which also involve syndactyly might interfere with hand function.

Causes

The variant of MS that fuses the 4th and 5th metacarpals is caused by X-linked recessive mutations (alterations or duplications) in the FGF16 gene, in chromosome X.[10]

It is a feature of various rare disorders such as Apert's syndrome, and can occur alongside other isolated congenital hand/foot malformations including syndactyly, cleft hand, metatarsal synostosis, and polydactyly.[11]

A syndromic form of syndactyly known as syndactyly type V has metacarpal and metatarsal synostosis as symptoms.[12]

Diagnosis

The following diagnostic methods can be used for metacarpal synostosis:[13]

Treatment

Treatment for this malformation typically involves the following:

1. Osteotomy (for splitting/separating the synostosic metacarpals)

2. Bone graft (for lengthening of shortened metacarpals, usually the fifth)

3. Ligament reconstruction

4. Tendon transposition (for the extensor digiti minimi quinti)

Epidemiology

This condition is thought to affect approximately 0.02% to 0.07% of the general population.[14] [15]

Associations

A large family has been described as having nonsense mutations of the FGF16 gene which resulted in metacarpal synostosis and, unexpectedly, in heart disease.[16]

Notes and References

  1. Web site: Metacarpals 4 and 5 fusion - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-09 . rarediseases.info.nih.gov . en.
  2. Web site: OMIM Entry #309630 - Metacarpal 4-5 Fusion; MF4 . 2022-06-09 . omim.org . en-us.
  3. Habighorst LV, Albers P . [Familial synostosis of metacarpi IV and V] ]. Zeitschrift für Orthopädie und Ihre Grenzgebiete . 100 . 4 . 521–525 . November 1965 . 4223440 .
  4. Lonardo F, Della Monica M, Riccardi G, Riccio I, Riccio V, Scarano G . A family with X-linked recessive fusion of metacarpals IV and V . American Journal of Medical Genetics. Part A . 124A . 4 . 407–410 . February 2004 . 14735591 . 10.1002/ajmg.a.20382 . 9168511 .
  5. Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S . 6 . 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 . September 2013 . 23709756 . 10.1136/jmedgenet-2013-101659 . 9501794 .
  6. Holmes LB, Wolf E, Miettinen OS . Metacarpal 4-5 fusion with X-linked recessive inheritance . American Journal of Human Genetics . 24 . 5 . 562–568 . September 1972 . 4538283 . 1762184 .
  7. Jones B, Byers H, Watson JS, Newman WG . Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion . Clinical Dysmorphology . 23 . 3 . 95–97 . July 2014 . 24878828 . 10.1097/MCD.0000000000000043 .
  8. Annerén G, Amilon A . X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V . American Journal of Medical Genetics . 52 . 2 . 248–250 . August 1994 . 7802024 . 10.1002/ajmg.1320520230 .
  9. Web site: Kegg Disease: Metacarpal 4-5 fusion . 2022-06-09 . www.genome.jp.
  10. Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A . 6 . Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease . Molecular Genetics & Genomic Medicine . 2 . 5 . 402–411 . September 2014 . 25333065 . 4190875 . 10.1002/mgg3.81 .
  11. Buck-Gramcko . Dieter . Wood . Virchel E. . 1993-07-01 . The treatment of metacarpal synostosis . The Journal of Hand Surgery . en . 18 . 4 . 565–581 . 10.1016/0363-5023(93)90292-B . 8394398 . 0363-5023.
  12. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Search a disease . 2022-09-10 . www.orpha.net . en.
  13. Elalaoui . Siham Chafai . Jdioui . Wafae . Guaoua . Soukaina . Jaouad . Imane Cherkaoui . Madhi . Tarik . Sefiani . Abdelaziz . 2015-01-06 . Report of the First Moroccan Case of Fusion of Metacarpals 4/5 and Review of the Literature . International Journal of Clinical Pediatrics . en . 3 . 4 . 117–120. 10.14740/ijcp176e . free .
  14. Liao CD, Yamin F, Simpson RL . Correction of 4th and 5th metacarpal synostosis in a skeletally mature hand using de-rotational osteotomies . Case Reports in Plastic Surgery & Hand Surgery . 9 . 1 . 15–21 . 2022-12-31 . 34993272 . 8725938 . 10.1080/23320885.2021.2011290 .
  15. Gottschalk MB, Danilevich M, Gottschalk HP . Carpal Coalitions and Metacarpal Synostoses: A Review . Hand . 11 . 3 . 271–277 . September 2016 . 27698627 . 5030847 . 10.1177/1558944715614860 .
  16. Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A . 6 . Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease . Molecular Genetics & Genomic Medicine . 2 . 5 . 402–411 . September 2014 . 25333065 . 4190875 . 10.1002/mgg3.81 .

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