Details of Disease

General Information of Disease (ID: DISKIG0N)

• Disease Name: Syndactyly type 8
• Synonyms: metacarpals 4 and 5 fusion; metacarpal 4-5 fusion; MF4; FGF16 non-syndromic syndactyly; fusion of metacarpals 4 and 5; non-syndromic syndactyly caused by mutation in FGF16; metacarpal 4-5 fusion, X-linked recessive
• 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.
• Disease Hierarchy:
  DISDSSO2: Non-syndromic syndactyly
  DISKIG0N: Syndactyly type 8
• Disease Identifiers:
  MONDO ID: MONDO_0010669
  UMLS CUI: C1839728
  OMIM ID: 309630
  MedGen ID: 333392
  Orphanet ID: 2498
  SNOMED CT ID: 715442006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF16	OT6BHWZP	Strong	X-linked	[1]

References

• [1] 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. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24.