Metacarpal 4-5 Fusion; Mf4

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Metacarpal 4-5 Fusion; Mf4

  • Blindness
  • Inguinal hernia
  • Hernia
  • Syndactyly
  • Upslanted palpebral fissure
  • Hyperactivity
  • Thin upper lip vermilion
  • Attention deficit hyperactivity disorder
  • Toe syndactyly
  • Triangular face
And another 5 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Metacarpal 4-5 Fusion; Mf4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Isolated limb hypoplasia and limb reduction defects: Split-hand/foot; Synostosis; isolated Brachydactyly; Polydactyly; Syndactyly Panel.

By CeGaT GmbH in Germany.

TRPV4, GLI3, TP63, BMPR1B, GJA1, HOXA11, ROR2, WNT7A, LRP4, HOXD13, PTHLH, GDF5, WNT10B, BMP2, BHLHA9, IHH, FBLN1, NOG, LMBR1, FGF16
Specificity
5 %
Genes
100 %
FGF16.

By Fulgent Genetics Fulgent Genetics in United States.

FGF16
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Metacarpal 4-5 Fusion; Mf4 Is also known as ;fusion of metacarpals 4 and 5.



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