Eye Abnormalities (definition)

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ψ ψ	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

Substance	Categories	Source
Axenfeld-Rieger syndrome type 2	*Eye Abnormalities Anterior Eye Segment/abnormalities.
Oculocerebrocutaneous syndrome	Eye Abnormalities Skin Abnormalities *Central Nervous System Cysts Fingers/abnormalities.
Fronto-facio-nasal dysplasia	Encephalocele Eye Abnormalities Facial Asymmetry Craniofacial Abnormalities Nose/abnormalities.
PHACE association	Aortic Coarctation Eye Abnormalities *Neurocutaneous Syndromes.
Peters anomaly	Corneal Opacity Eye Abnormalities Anterior Eye Segment/abnormalities.
Oculoauriculofrontonasal syndrome	Eye Abnormalities Respiratory System Abnormalities *Craniofacial Abnormalities Ear, External/abnormalities Spine/abnormalities.
Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss	Abnormalities, Multiple Eye Abnormalities Hearing Loss, Sensorineural Heart Septal Defects, Atrial.
Anterior segment mesenchymal dysgenesis	*Eye Abnormalities.
Oculorenocerebellar syndrome	Abnormalities, Multiple Eye Abnormalities Cerebellum/abnormalities Kidney/abnormalities.
Oculopalatoskeletal syndrome	Craniosynostoses Eye Abnormalities.
Oculomaxillofacial dysostosis	Cleft Palate Craniofacial Dysostosis Eye Abnormalities Maxillofacial Abnormalities.
Geleophysic dwarfism	Dwarfism Eye Abnormalities Inclusion Bodies Connective Tissue/abnormalities.
Microcornea, glaucoma, and absent frontal sinuses	Eye Abnormalities Glaucoma Cornea/abnormalities Frontal Sinus/abnormalities.
Microcephaly microcornea syndrome Seemanova type	Cataract Corneal Diseases Eye Abnormalities Growth Disorders Intellectual Disability Microcephaly *Genetic Diseases, X-Linked.
Pierson syndrome	Abnormalities, Multiple Eye Abnormalities *Pupil Disorders.
Kaufman oculocerebrofacial syndrome	Eye Abnormalities Intellectual Disability Microcephaly Limb Deformities, Congenital *Facies.
Kapur Toriello syndrome	Abnormalities, Multiple Cleft Lip Cleft Palate Eye Abnormalities Intellectual Disability Craniofacial Abnormalities Intestines/abnormalities.
Torsion dystonia with onset in infancy	Dystonia Eye Abnormalities.
Pena Shokeir syndrome Type 2	*Eye Abnormalities Bone and Bones/abnormalities Face/abnormalities.
Arthrogryposis multiplex congenita pulmonary hypoplasia	Abnormalities, Multiple Arthrogryposis Cryptorchidism Eye Abnormalities *Craniofacial Abnormalities.
CODAS syndrome	Eye Abnormalities Growth Disorders Hip Dislocation, Congenital Osteochondrodysplasias Tooth Abnormalities Craniofacial Abnormalities.
Nephrotic syndrome ocular anomalies	Eye Abnormalities Nephrotic Syndrome/congenital.
FACES syndrome	Anorexia Cachexia Eye Abnormalities Skin Diseases *Facies.
Ankyloblepharon filiforme adnatum cleft palate	Cleft Lip Cleft Palate *Eye Abnormalities.
Joubert syndrome 2	Cerebellar Diseases Eye Abnormalities *Kidney Diseases, Cystic Retina/abnormalities.
Joubert syndrome 1	Cerebellar Diseases Eye Abnormalities *Kidney Diseases, Cystic Retina/abnormalities.
Blue diaper syndrome	Amino Acid Metabolism, Inborn Errors Eye Abnormalities Hypercalcemia Kidney Diseases Tryptophan.
Cole Carpenter syndrome	Craniosynostoses Eye Abnormalities Hydrocephalus Osteogenesis Imperfecta.
Chemke Oliver Mallek syndrome	Abnormalities, Multiple Eye Abnormalities Fingers/abnormalities.	J Genet Hum 26(1):17-24
Rozin Hertz Goodman syndrome	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	Cleft Lip Cleft Palate Ectodermal Dysplasia Eye Abnormalities Eyelids/abnormalities.
Dwarfism stiff joint ocular abnormalities	Dwarfism Eye Abnormalities Hand Deformities, Congenital Joint Diseases.
Rieger syndrome 2	*Eye Abnormalities Anterior Eye Segment/abnormalities.
Axenfeld-Rieger syndrome	*Eye Abnormalities Anterior Eye Segment/abnormalities.
Ablepharon macrostomia syndrome	Abnormalities, Multiple Eye Abnormalities *Macrostomia.
Iridogoniodysgenesis, dominant type	Eye Abnormalities Glaucoma Iris Diseases Tooth Abnormalities Anterior Chamber/abnormalities.
Iridogoniodysgenesis type1	Eye Abnormalities Glaucoma *Iris Diseases.
Iridogoniodysgenesis and skeletal anomalies	*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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