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Carpometacarpal synostosis

MedGen UID:
867756
•Concept ID:
C4022145
•
Anatomical Abnormality
Synonym: Fused wrist bones and long bones of hand
 
HPO: HP:0100328

Definition

Fusion involving carpal and metacarpal bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarpometacarpal synostosis

Conditions with this feature

Mesomelia-synostoses syndrome
MedGen UID:
324959
•Concept ID:
C1838162
•
Disease or Syndrome
The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009). Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).
See: Condition Record
Mesomelia-synostoses syndrome

Recent clinical studies

Etiology

Radial shift of the ulnar fingers: a new technique for special cases of longitudinal central deficiency.
Foucher G, Loréa P, Hovius S, Pivato G, Medina J
J Hand Surg Br 2006 Apr;31(2):156-61. Epub 2006 Jan 25 doi: 10.1016/j.jhsb.2005.12.003. PMID: 16442191

Diagnosis

Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex.
Glodny B, Bendix N, Trieb T, Gassner E, Gruber H, Petersen J
Clin Imaging 2007 Jan-Feb;31(1):62-6. doi: 10.1016/j.clinimag.2006.10.004. PMID: 17189852

Prognosis

Radial shift of the ulnar fingers: a new technique for special cases of longitudinal central deficiency.
Foucher G, Loréa P, Hovius S, Pivato G, Medina J
J Hand Surg Br 2006 Apr;31(2):156-61. Epub 2006 Jan 25 doi: 10.1016/j.jhsb.2005.12.003. PMID: 16442191

Clinical prediction guides

Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome.
Leroy JG, Claus L, Lee B, Mortier GR
Pediatr Pathol Mol Med 2003 Jan-Feb;22(1):23-35. doi: 10.1080/pdp.22.1.23.35. PMID: 12687887

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