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Aplasia of the distal phalanx of the 5th finger

MedGen UID:
870070
Concept ID:
C4024501
Anatomical Abnormality
Synonyms: Absent outermost little finger bone; Absent outermost pinkie finger bone; Absent outermost pinky finger bone
 
HPO: HP:0009246

Definition

Absence of the distal phalanx of the little (5th) finger. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the distal phalanx of the 5th finger

Conditions with this feature

Intellectual disability-brachydactyly-Pierre Robin syndrome
MedGen UID:
325196
Concept ID:
C1837564
Disease or Syndrome
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.

Recent clinical studies

Etiology

Tovbin J, Maymon R, Tovbin L, Dreazen E, Bukovsky I, Herman A
Ultrasound Obstet Gynecol 2002 Jun;19(6):583-7. doi: 10.1046/j.1469-0705.2002.00628.x. PMID: 12047538

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