Coloboma (definition)

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Coloboma

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Definition: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.

eye abnorm; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES; coord IM with specific site in eye /abnorm (IM)

Other names Colobomas

Substance	Categories	Source
Nasopalpebral lipoma coloboma syndrome	Abnormalities, Multiple Coloboma Eyelid Neoplasms Lipoma.
Hittner Hirsch Kreh syndrome	Abnormalities, Multiple Coloboma Hearing Loss, Sensorineural Heart Defects, Congenital Intellectual Disability Microphthalmos Ear/abnormalities.
Calloso-genital dysplasia	Amenorrhea Coloboma *Agenesis of Corpus Callosum.
Baraitser Rodeck Garner syndrome	Cleft Lip Cleft Palate Coloboma Craniosynostoses Intellectual Disability Seizures *Kidney Diseases, Cystic Ear/abnormalities Nose/abnormalities.
Pfeiffer Mayer syndrome	Abnormalities, Multiple Coloboma Growth Disorders Intellectual Disability *Polydactyly.
Microphthalmia associated with colobomatous cyst	Cysts Coloboma *Microphthalmos.
Microphthalmia and mental deficiency	Coloboma Corneal Opacity Microphthalmos Intellectual Disability Microcephaly Brain Diseases, Metabolic, Inborn.
Arima syndrome	Cerebellar Diseases Coloboma *Polycystic Kidney Diseases.
Papillorenal syndrome	Coloboma Vesico-Ureteral Reflux *Renal Insufficiency.
Temtamy syndrome	Coloboma Craniofacial Abnormalities *Agenesis of Corpus Callosum.
Zunich neuroectodermal syndrome	Coloboma Hearing Loss, Conductive Heart Defects, Congenital Ichthyosis *Intellectual Disability.
Yim Ebbin syndrome	Abnormalities, Multiple Cleft Lip Coloboma Cleft Palate Ectromelia Hydrocephalus.
Alsing syndrome	Coloboma Kidney Diseases Fundus Oculi Humerus/abnormalities Macula Lutea Radius/abnormalities.
COACH syndrome	Abnormalities, Multiple Ataxia Cholestasis Coloboma *Liver Diseases Brain/abnormalities.
Median cleft lip, corpus callosum, lipoma, and skin polyps	Cleft Lip Coloboma Lipoma Nasal Polyps Skin Diseases Agenesis of Corpus Callosum.
Marles Greenberg Persaud syndrome	Abnormalities, Multiple Coloboma *Hypertelorism Anal Canal/abnormalities.	Am J Med Genet. 1992;42(6):793-9
Coloboma, cleft lip/palate and mental retardation syndrome	Cleft Lip Cleft Palate Coloboma Hearing Loss, Sensorineural Hematuria Intellectual Disability *Microphthalmos.
Coloboma of optic nerve	*Coloboma Optic Nerve/abnormalities.
Coloboma of macula type B brachydactyly	Coloboma Brachydactyly.
Hereditary macular coloboma	*Coloboma Macula Lutea/abnormalities.
Coloboma of Alar-nasal cartilages with telecanthus	Coloboma Osteochondrodysplasias *Blepharophimosis.
Macrosomia obesity macrocephaly ocular abnormalities	Abnormalities, Multiple Coloboma Fetal Macrosomia Intellectual Disability Obesity Macrocephaly Head/abnormalities.
Biemond syndrome type 2	Coloboma Hypogonadism Intellectual Disability Obesity *Polydactyly.

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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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