MF4
MCID: MTC100
MIFTS: 31
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Metacarpal 4-5 Fusion (MF4)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Metacarpal 4-5 Fusion:
Characteristics:Inheritance:
Metacarpal 4-5 Fusion:
X-linked recessive 57
Syndactyly Type 8:
Autosomal dominant,X-linked recessive 58
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
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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
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Human phenotypes related to Metacarpal 4-5 Fusion:30
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Cochrane evidence based reviews: metacarpal 4 5 fusion |
Organs/tissues related to Metacarpal 4-5 Fusion:
MalaCards :
Bone
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Articles related to Metacarpal 4-5 Fusion:
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ClinVar genetic disease variations for Metacarpal 4-5 Fusion:5
UniProtKB/Swiss-Prot genetic disease variations for Metacarpal 4-5 Fusion:73
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Search
GEO
for disease gene expression data for Metacarpal 4-5 Fusion.
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Biological processes related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:
Molecular functions related to Metacarpal 4-5 Fusion according to GeneCards Suite gene sharing:
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