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Abnormal eye morphology

MedGen UID:
868526
Concept ID:
C4022925
Anatomical Abnormality
Synonyms: Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye
 
HPO: HP:0012372

Definition

A structural anomaly of the globe of the eye, or bulbus oculi. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal eye morphology

Conditions with this feature

Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.

Recent clinical studies

Etiology

Kato Y, Kato M, Tachibana M, Shinkai Y, Yamaguchi M
Genes Cells 2008 Jul;13(7):703-22. Epub 2008 May 21 doi: 10.1111/j.1365-2443.2008.01199.x. PMID: 18498352

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