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Short middle phalanx of the 3rd finger

MedGen UID:
867116
Concept ID:
C4021474
Anatomical Abnormality
Synonyms: Brachymesophalangy III (finger); Hypoplastic/small middle phalanx of the 3rd finger; Short middle bone of middle finger
 
HPO: HP:0009439

Definition

Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort middle phalanx of the 3rd finger

Conditions with this feature

Brachydactyly type C
MedGen UID:
350590
Concept ID:
C1862103
Congenital Abnormality
The brachydactyly type C (BDC) phenotype includes brachymesophalangy of fingers 2, 3, and 5. The fourth finger is usually unaffected and thus appears as the longest finger of the hand. Shortening of metacarpal 1 and hyperphalangy in fingers 2 and 3 may occur and can be considered relatively characteristic signs. BDC can be highly variable, ranging from severely affected hands with very short fingers to mildly affected cases with only moderate brachydactyly, most often affecting the middle and proximal phalanges of fingers 2 and 3 (summary by Lehmann et al., 2006).
Brachydactyly type A1C
MedGen UID:
767360
Concept ID:
C3554446
Disease or Syndrome
Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.

Recent clinical studies

Clinical prediction guides

Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981

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