Metacarpal synostosis

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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]

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:[11]

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]

References

  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.
  9. ^ "Kegg Disease: Metacarpal 4-5 fusion". www.genome.jp. Retrieved 2022-06-09.
  10. ^ Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al. (September 2014). "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. doi:10.1002/mgg3.81. PMC 4190875. PMID 25333065.
  11. ^ a b Buck-Gramcko, Dieter; Wood, Virchel E. (1993-07-01). "The treatment of metacarpal synostosis". The Journal of Hand Surgery. 18 (4): 565–581. doi:10.1016/0363-5023(93)90292-B. ISSN 0363-5023. PMID 8394398.
  12. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Search a disease". www.orpha.net. Retrieved 2022-09-10.{{cite web}}: CS1 maint: numeric names: authors list (link)
  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. 3 (4): 117–120. doi:10.14740/ijcp176e.
  14. ^ Liao CD, Yamin F, Simpson RL (2022-12-31). "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. doi:10.1080/23320885.2021.2011290. PMC 8725938. PMID 34993272.
  15. ^ Gottschalk MB, Danilevich M, Gottschalk HP (September 2016). "Carpal Coalitions and Metacarpal Synostoses: A Review". Hand. 11 (3): 271–277. doi:10.1177/1558944715614860. PMC 5030847. PMID 27698627.
  16. ^ Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al. (September 2014). "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. doi:10.1002/mgg3.81. PMC 4190875. PMID 25333065.
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