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Rounded middle phalanx of finger

MedGen UID:
870672
Concept ID:
C4025126
Anatomical Abnormality
Synonym: Rounded middle bone of finger
 
HPO: HP:0005844

Definition

An abnormally round shape of the middle phalanx of the finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRounded middle phalanx of finger

Conditions with this feature

Histidine transport defect
MedGen UID:
82825
Concept ID:
C0268642
Disease or Syndrome
A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.

Recent clinical studies

Etiology

Kumar VP, Pang M, Pho RW
Ann Acad Med Singap 1981 Jul;10(3):317-22. PMID: 7332302

Diagnosis

Wang Z, Zou Y, Chen Y, Chen Y
Medicine (Baltimore) 2018 Apr;97(17):e0512. doi: 10.1097/MD.0000000000010512. PMID: 29703018Free PMC Article

Clinical prediction guides

Wang Z, Zou Y, Chen Y, Chen Y
Medicine (Baltimore) 2018 Apr;97(17):e0512. doi: 10.1097/MD.0000000000010512. PMID: 29703018Free PMC Article

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