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Aplasia/Hypoplasia of the middle phalanx of the 5th finger

MedGen UID:
320253
Concept ID:
C1834034
Finding
Synonym: Absent/hypoplastic middle phalanx of 5th finger
 
HPO: HP:0009161

Definition

Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the middle phalanx of the 5th finger

Conditions with this feature

Type A2 brachydactyly
MedGen UID:
318690
Concept ID:
C1832702
Congenital Abnormality
Brachydactyly type A2 is an autosomal dominant disorder characterized by malformations of the middle phalanx of the index finger and by anomalies of the second toe (summary by Su et al., 2011).
Mesoaxial synostotic syndactyly with phalangeal reduction
MedGen UID:
324459
Concept ID:
C1836206
Disease or Syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014).

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