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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
Substance
CAS Registry & name
Categories
Source
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.