Metacarpal 4-5 fusion

Definition:

Metacarpal 4-5 fusion (MF4) is a rare congenital malformation of the hands characterised by the partial or complete fusion of the fourth and fifth metacarpal bones. The anomaly manifests clinically as ulnar deviation of the fifth fingers, clinodactyly, reduced mobility, and shortening of the fifth metacarpals. MF4 can occur in either an isolated manner or with other features, as part of a syndromal diagnosis, for example, in Kallmann syndrome. In most of the reported families, isolated MF4 was inherited in an X-linked recessive manner, although pedigrees typical of autosomal dominant inheritance have been described. Several reports provide evidence that mutations in FGF16 are associated with isolated X-linked recessive MF4. Syndactyly type V (SD5) is an isolated limb malformation showing partial clinical overlap with MF4, in which metacarpal but additionally metatarsal synostosis coexists with other hand and foot abnormalities clearly distinguishing the two conditions.

References:

[1]. Aleksander Jamsheer, et al. Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):314-8. [Content Brief]

[2]. Aleksander Jamsheer, et al. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. J Med Genet. 2013 Sep;50(9):579-84. [Content Brief]

[3]. Benedict Jones, et al. Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. Clin Dysmorphol. 2014 Jul;23(3):95-97. [Content Brief]

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