MF4
MCID: MTC100
MIFTS: 31

Metacarpal 4-5 Fusion (MF4)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Metacarpal 4-5 Fusion

MalaCards integrated aliases for Metacarpal 4-5 Fusion:

Name: Metacarpal 4-5 Fusion 57 11 73 38 71
Syndactyly Type 8 11 58 28 5 14
Fusion of Metacarpals 4 and 5 11 58
Mf4 57 73
Metacarpals 4 and 5 Fusion 19
Metacarpal 4 5 Fusion 43

Characteristics:


Inheritance:

Metacarpal 4-5 Fusion: X-linked recessive 57
Syndactyly Type 8: Autosomal dominant,X-linked recessive 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0111813
OMIM® 57 309630
SNOMED-CT 68 715442006
ICD10 via Orphanet 32 Q70.0
UMLS via Orphanet 72 C1839728
Orphanet 58 ORPHA2498
MedGen 40 C1839728
UMLS 71 C1839728

Summaries for Metacarpal 4-5 Fusion

GARD: 19 A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.

MalaCards based summary: Metacarpal 4-5 Fusion, also known as syndactyly type 8, is related to poland syndrome and spondyloepimetaphyseal dysplasia, x-linked. 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 4-5 metacarpal synostosis and limbs/digits/tail

Orphanet: 58 A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

More information from OMIM: 309630

Related Diseases for Metacarpal 4-5 Fusion

Graphical network of the top 20 diseases related to Metacarpal 4-5 Fusion:



Diseases related to Metacarpal 4-5 Fusion

Symptoms & Phenotypes for Metacarpal 4-5 Fusion

Human phenotypes related to Metacarpal 4-5 Fusion:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 4-5 metacarpal synostosis 30 HP:0005867

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Hands:
fusion of fourth and fifth metacarpals
shortening of the fifth metacarpal

Skeletal Feet:
syndactyly of toes 2-3 (in some patients)

Clinical features from OMIM®:

309630 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Metacarpal 4-5 Fusion:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.02 BHLHA9 FBLN1 FGF8 HOXD12 LMBR1

Drugs & Therapeutics for Metacarpal 4-5 Fusion

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

Cochrane evidence based reviews: metacarpal 4 5 fusion

Genetic Tests for Metacarpal 4-5 Fusion

Genetic tests related to Metacarpal 4-5 Fusion:

# Genetic test Affiliating Genes
1 Syndactyly Type 8 28 FGF16

Anatomical Context for Metacarpal 4-5 Fusion

Organs/tissues related to Metacarpal 4-5 Fusion:

MalaCards : Bone

Publications for Metacarpal 4-5 Fusion

Articles related to Metacarpal 4-5 Fusion:

# Title Authors PMID Year
1
Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion. 62 57 5
24878828 2014
2
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. 62 57 5
23709756 2013
3
Metacarpal 4-5 fusion with X-linked recessive inheritance. 62 57
4538283 1972
4
A family with X-linked recessive fusion of metacarpals IV and V. 57
14735591 2004
5
X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V. 57
7802024 1994
6
[Familial synostosis of metacarpi IV and V]. 57
4223440 1965
7
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. 62
24706454 2014
8
Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5. 62
15083702 2004
9
Syndactyly type V. 62
6283889 1982

Variations for Metacarpal 4-5 Fusion

ClinVar genetic disease variations for Metacarpal 4-5 Fusion:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGF16 NM_003868.3(FGF16):c.535C>T (p.Arg179Ter) SNV Pathogenic
66059 rs587777050 GRCh37: X:76711924-76711924
GRCh38: X:77456433-77456433
2 FGF16 NM_003868.3(FGF16):c.470C>A (p.Ser157Ter) SNV Pathogenic
66060 rs587777051 GRCh37: X:76711859-76711859
GRCh38: X:77456368-77456368
3 FGF16 NM_003868.2(FGF16):c.275_293dup DUP Pathogenic
160345 rs606231304 GRCh37: X:76709645-76709646
GRCh38: X:77454154-77454155

UniProtKB/Swiss-Prot genetic disease variations for Metacarpal 4-5 Fusion:

73
# Symbol AA change Variation ID SNP ID
1 FGF16 p.Arg68Leu VAR_072396

Expression for Metacarpal 4-5 Fusion

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

Pathways for Metacarpal 4-5 Fusion

Pathways related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.38 FGF8 FGF16

GO Terms for Metacarpal 4-5 Fusion

Biological processes related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 embryo development ending in birth or egg hatching GO:0009792 8.8 FGF8 AKIRIN2

Molecular functions related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.92 FGF8 FGF16

Sources for Metacarpal 4-5 Fusion

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....