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Underdeveloped superior crus of antihelix

MedGen UID:
866835
Concept ID:
C4021189
Anatomical Abnormality
Synonyms: Hypoplastic superior crus of antihelix; Hypotrophic superior crus of antihelix
 
HPO: HP:0011246

Definition

Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUnderdeveloped superior crus of antihelix

Conditions with this feature

FG syndrome 2
MedGen UID:
337461
Concept ID:
C1845902
Disease or Syndrome
Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450).

Recent clinical studies

Etiology

Kon M, van Wijk MP
J Plast Reconstr Aesthet Surg 2014 Mar;67(3):358-61. Epub 2013 Dec 30 doi: 10.1016/j.bjps.2013.12.020. PMID: 24461552

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