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Slit-like opening of the exterior auditory meatus

MedGen UID:
339530
Concept ID:
C1846459
Finding
Synonym: Slit-like openings of the exterior auditory meatus
 
HPO: HP:0008588

Definition

A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Slit-like opening of the exterior auditory meatus

Conditions with this feature

Duane-radial ray syndrome
MedGen UID:
301647
Concept ID:
C1623209
Disease or Syndrome
SALL4-related disorders include Duane-radial ray syndrome (DRRS, Okihiro syndrome), acro-renal-ocular syndrome (AROS), and SALL4-related Holt-Oram syndrome (HOS) – three phenotypes previously thought to be distinct entities. DRRS is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs, hypoplasia or aplasia of the radii, shortening and radial deviation of the forearms, triphalangeal thumbs, and duplication of the thumb (preaxial polydactyly). AROS is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesicoureteral reflux, bladder diverticula), ocular coloboma, and Duane anomaly. Rarely, pathogenic variants in SALL4 may cause clinically typical HOS (i.e., radial ray malformations and cardiac malformations without additional features).

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