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Short distal phalanx of the 3rd finger

MedGen UID:
867318
Concept ID:
C4021681
Anatomical Abnormality
Synonyms: Hypoplastic/small distal phalanx of the 3rd finger; Short distal phalanx of the third finger; Short outermost bone of the middle finger; Short terminal phalanx of middle finger
 
HPO: HP:0004180

Definition

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

Term Hierarchy

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

Conditions with this feature

Spondyloperipheral dysplasia
MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability.

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