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Eye Abnormalities

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Definition: Congenital absence of or defects in structures of the eye; may also be hereditary.  do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; these are structural abnorm: EYE DISEASES, HEREDITARY is also available   
Examples Aniridia; Anophthalmos; Blepharophimosis; Coloboma; Ectopia Lentis; Fraser Syndrome; Hydrophthalmos; Microphthalmos; Persistent Hyperplastic Primary Vitreous; Retinal Dysplasia
Other names Eye Abnormality; Abnormality, Eye; Abnormalities, Eye
 
SubstanceCAS Registry & nameCategoriesSource
Axenfeld-Rieger syndrome type 2  0   *Eye Abnormalities Anterior Eye Segment/abnormalities.
Oculocerebrocutaneous syndrome  0   *Eye Abnormalities *Skin Abnormalities *Central Nervous System Cysts Fingers/abnormalities.
Fronto-facio-nasal dysplasia  0   *Encephalocele *Eye Abnormalities *Facial Asymmetry *Craniofacial Abnormalities Nose/abnormalities.
PHACE association  0   *Aortic Coarctation *Eye Abnormalities *Neurocutaneous Syndromes.
Peters anomaly  0   *Corneal Opacity *Eye Abnormalities Anterior Eye Segment/abnormalities.
Oculoauriculofrontonasal syndrome  0   *Eye Abnormalities *Respiratory System Abnormalities *Craniofacial Abnormalities Ear, External/abnormalities Spine/abnormalities.
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss  0   *Abnormalities, Multiple *Eye Abnormalities *Hearing Loss, Sensorineural *Heart Septal Defects, Atrial.
Anterior segment mesenchymal dysgenesis  0   *Eye Abnormalities.
Oculorenocerebellar syndrome  0   *Abnormalities, Multiple *Eye Abnormalities Cerebellum/abnormalities Kidney/abnormalities.
Oculopalatoskeletal syndrome  0   *Craniosynostoses *Eye Abnormalities.
Oculomaxillofacial dysostosis  0   *Cleft Palate *Craniofacial Dysostosis *Eye Abnormalities *Maxillofacial Abnormalities.
Geleophysic dwarfism  0   *Dwarfism *Eye Abnormalities Inclusion Bodies Connective Tissue/abnormalities.
Microcornea, glaucoma, and absent frontal sinuses  0   *Eye Abnormalities *Glaucoma Cornea/abnormalities Frontal Sinus/abnormalities.
Microcephaly microcornea syndrome Seemanova type  0   *Cataract *Corneal Diseases *Eye Abnormalities *Growth Disorders *Intellectual Disability *Microcephaly *Genetic Diseases, X-Linked.
Pierson syndrome  0   *Abnormalities, Multiple *Eye Abnormalities *Pupil Disorders.
Kaufman oculocerebrofacial syndrome  0   *Eye Abnormalities *Intellectual Disability *Microcephaly *Limb Deformities, Congenital *Facies.
Kapur Toriello syndrome  0   *Abnormalities, Multiple *Cleft Lip *Cleft Palate *Eye Abnormalities *Intellectual Disability *Craniofacial Abnormalities Intestines/abnormalities.
Torsion dystonia with onset in infancy  0   *Dystonia *Eye Abnormalities.
Pena Shokeir syndrome Type 2  0   *Eye Abnormalities Bone and Bones/abnormalities Face/abnormalities.
Arthrogryposis multiplex congenita pulmonary hypoplasia  0   *Abnormalities, Multiple *Arthrogryposis *Cryptorchidism *Eye Abnormalities *Craniofacial Abnormalities.
CODAS syndrome  0   *Eye Abnormalities *Growth Disorders *Hip Dislocation, Congenital *Osteochondrodysplasias *Tooth Abnormalities *Craniofacial Abnormalities.
Nephrotic syndrome ocular anomalies  0   *Eye Abnormalities *Nephrotic Syndrome/congenital.
FACES syndrome  0   *Anorexia *Cachexia *Eye Abnormalities *Skin Diseases *Facies.
Ankyloblepharon filiforme adnatum cleft palate  0   *Cleft Lip *Cleft Palate *Eye Abnormalities.
Joubert syndrome 2  0   *Cerebellar Diseases *Eye Abnormalities *Kidney Diseases, Cystic Retina/abnormalities.
Joubert syndrome 1  0   *Cerebellar Diseases *Eye Abnormalities *Kidney Diseases, Cystic Retina/abnormalities.
Blue diaper syndrome  0   *Amino Acid Metabolism, Inborn Errors *Eye Abnormalities *Hypercalcemia *Kidney Diseases Tryptophan.
Cole Carpenter syndrome  0   *Craniosynostoses *Eye Abnormalities *Hydrocephalus *Osteogenesis Imperfecta.
Chemke Oliver Mallek syndrome  0   *Abnormalities, Multiple *Eye Abnormalities Fingers/abnormalities. J Genet Hum 26(1):17-24
Rozin Hertz Goodman syndrome  0   *Abnormalities, Multiple *Contracture *Eye Abnormalities *Hand Deformities, Congenital *Craniofacial Abnormalities. Clin Genet. 1984;26(4):342-55; Am J Med Genet. 1998;77(1):28-30
Hay-Wells syndrome  0   *Cleft Lip *Cleft Palate *Ectodermal Dysplasia *Eye Abnormalities Eyelids/abnormalities.
Dwarfism stiff joint ocular abnormalities  0   *Dwarfism *Eye Abnormalities *Hand Deformities, Congenital *Joint Diseases.
Rieger syndrome 2  0   *Eye Abnormalities Anterior Eye Segment/abnormalities.
Axenfeld-Rieger syndrome  0   *Eye Abnormalities Anterior Eye Segment/abnormalities.
Ablepharon macrostomia syndrome  0   *Abnormalities, Multiple *Eye Abnormalities *Macrostomia.
Iridogoniodysgenesis, dominant type  0   *Eye Abnormalities *Glaucoma *Iris Diseases *Tooth Abnormalities Anterior Chamber/abnormalities.
Iridogoniodysgenesis type1  0   *Eye Abnormalities *Glaucoma *Iris Diseases.
Iridogoniodysgenesis and skeletal anomalies  0   *Eye Abnormalities Bone and Bones/abnormalities.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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