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Wide tufts of distal phalanges

MedGen UID:
322575
Concept ID:
C1835101
Finding
Synonym: Wide tips of outermost digital bone
 
HPO: HP:0006095

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWide tufts of distal phalanges

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

Tan AL, Tanner SF, Waller ML, Hensor EM, Burns A, Jeavons AP, Bury RF, Emery P, McGonagle D
Rheumatology (Oxford) 2013 May;52(5):898-904. Epub 2013 Jan 9 doi: 10.1093/rheumatology/kes384. PMID: 23307832

Prognosis

Tan AL, Tanner SF, Waller ML, Hensor EM, Burns A, Jeavons AP, Bury RF, Emery P, McGonagle D
Rheumatology (Oxford) 2013 May;52(5):898-904. Epub 2013 Jan 9 doi: 10.1093/rheumatology/kes384. PMID: 23307832

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