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Partial duplication of the distal phalanx of the 3rd finger

MedGen UID:
867003
Concept ID:
C4021360
Anatomical Abnormality
Synonyms: Bifid terminal phalanx of the 3rd finger; Notched outermost bone of the middle finger; Partial duplication of the outermost bone of the middle finger
 
HPO: HP:0009968

Definition

Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. [from HPO]

Term Hierarchy

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

Conditions with this feature

Saethre-Chotzen syndrome
MedGen UID:
64221
Concept ID:
C0175699
Disease or Syndrome
Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Syndactyly of digits two and three of the hand is variably present. Cognitive development is usually normal, although those with a large genomic deletion are at an increased risk for intellectual challenges. Less common manifestations of SCS include other skeletal findings (parietal foramina, vertebral segmentation defects, radioulnar synostosis, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated or curved distal hallux), hypertelorism, palatal anomalies, obstructive sleep apnea, increased intracranial pressure, short stature, and congenital heart malformations.

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