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Clinodactyly of the 4th finger

MedGen UID:
868093
Concept ID:
C4022484
Congenital Abnormality
Synonym: Curvature of ring finger
 
HPO: HP:0040025

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClinodactyly of the 4th finger

Conditions with this feature

Marshall syndrome
MedGen UID:
82694
Concept ID:
C0265235
Disease or Syndrome
Marshall syndrome (MRSHS) is characterized by midfacial hypoplasia, cleft palate, ocular anomalies including high myopia and cataracts, sensorineural hearing loss, short stature with spondyloepiphyseal dysplasia, and arthropathy. In contrast to Stickler syndrome type II, it has less severe eye findings but striking ocular hypertelorism, more pronounced maxillary hypoplasia, and ectodermal abnormalities (summary by Shanske et al., 1997 and Ala-Kokko and Shanske, 2009).

Recent clinical studies

Diagnosis

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592

Therapy

Sobreira N, Cernach M, Batista D, Brunoni D, Perez A
Am J Med Genet A 2009 Dec;149A(12):2843-8. doi: 10.1002/ajmg.a.33125. PMID: 19938091

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