Metacarpal 4-5 Fusion (MF4)

External Ids:

Disease Ontology 12 DOID:0111813 OMIM® 57 309630 KEGG 36 H01854 MeSH 44 C564100 D006228 SNOMED-CT 67 715442006

ICD10 via Orphanet 33 Q70.0 UMLS via Orphanet 71 C1839728 Orphanet 58 ORPHA2498 MedGen 41 C1839728 UMLS 70 C1839728

KEGG : ³⁶ 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.

MalaCards based summary : Metacarpal 4-5 Fusion, also known as syndactyly type 8, is related to deafness, autosomal recessive 71 and crouzon syndrome. An important gene associated with Metacarpal 4-5 Fusion is FGF16 (Fibroblast Growth Factor 16), and among its related pathways/superpathways is FGFR3 mutant receptor activation. Affiliated tissues include bone, and related phenotypes are fused fourth and fifth metacarpals and limbs/digits/tail

Disease Ontology : ¹² A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has material basis in hemizygous or homozygous mutation in FGF16 on chromosome Xq21.1.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2498 Definition Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

UniProtKB/Swiss-Prot : ⁷² Metacarpal 4-5 fusion: A rare congenital malformation of the hand characterized by the partial or complete fusion of the fourth and fifth metacarpals. The anomaly occurs as an isolated trait or part of a syndrome.

More information from OMIM: 309630

Clinical features from OMIM®:

309630 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Metacarpal 4-5 Fusion

Search GEO for disease gene expression data for Metacarpal 4-5 Fusion.