II. Definition
- Congenital ocular tissue defect or gap, most often affecting the iris
III. Findings
- Eyelid margin defect: Treacher Collins Syndrome
- Aniridia (Iris absent)
-
Iris and Retina defect: CHARGE Syndrome (rare Autosomal Dominant condition related to a CHD7 gene mutation)
- Coloboma
- Heart disease
- Choanal Atresia
- Postnatal growth retardation
- Genital hypoplasia
- Ear Abnormality
IV. Management
- Ophthalmology referral on identifying a Coloboma (typically on Newborn Exam)
V. References
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Related Studies
| Definition (NCI) | An abnormality in which a part of a structure in one or both eyes is missing. |
| Definition (MSH) | Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. |
| Concepts | Congenital Abnormality (T019) |
| MSH | D003103 |
| ICD10 | Q13.0 |
| SnomedCT | 92828000, 93390002 |
| English | Coloboma, Colobomas, Coloboma iris, choroid, retina, COLOBOMA, OCULAR, Ocular colobomas, COLOBOMA, UVEORETINAL, COI, COLOBOMA OF IRIS, CHOROID, AND RETINA, COI - Coloboma iris/chor/retin, Coloboma, uveoretinal, coloboma, coloboma (physical finding), congenital coloboma, congenital coloboma (diagnosis), Colobomata, Congenital ocular coloboma (disorder), Coloboma NOS, Coloboma [Disease/Finding], coloboma eye, ocular coloboma, colobomata, colobomas, Coloboma of the Eye, Coloboma Of Iris, Choroid, And Retina, Coloboma, Ocular, Coloboma, Uveoretinal, Uveoretinal Coloboma, Ocular Coloboma, Coloboma of iris, retina, and choroid, Congenital ocular coloboma (diagnosis), congenital anomalies of eye ocular coloboma, Coloboma of iris, choroid and retina, COI - Coloboma of iris, choroid and retina, Coloboma of eye (disorder), Coloboma of eye, Congenital ocular coloboma, Ocular coloboma, Congenital ocular coloboma, NOS, Coloboma of eye, NOS, Ocular coloboma, NOS |
| Dutch | colobomen, coloboom, Coloboom |
| German | Colobomata, Kolobom |
| Italian | Colobomi, Coloboma |
| Portuguese | Colobomas, Coloboma |
| Spanish | Colobomas, coloboma del ojo (trastorno), coloboma del ojo, coloboma ocular congénito (trastorno), coloboma ocular congénito, coloboma ocular, Coloboma |
| Japanese | 眼欠損症, ｶﾞﾝｹｯｿﾝｼｮｳ |
| Swedish | Kolobom |
| Czech | kolobom, Kolobom, Kolobomata |
| Finnish | Kolobooma |
| Russian | KOLOBOMA, КОЛОБОМА |
| Polish | Szczelina gałki ocznej wrodzona |
| Hungarian | Coloboma, Colobomata |
| French | Colobome de l'iris, de la choroïde et de la rétine, Colobome oculaire, Colobome |
| Norwegian | Kolobom, Coloboma |
Ontology: CHARGE Syndrome (C0265354)
| Definition (MSH) | Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. |
| Definition (NCI) | A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. |
| Concepts | Congenital Abnormality (T019) , Disease or Syndrome (T047) |
| MSH | D058747 |
| SnomedCT | 47535005, 394529000 |
| English | Colob, heart, cho atr, growth, Coloboma, congen heart, choanal atresia, growth, ear, CHARGE association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association, CHARGE ASSOCIATION--COLOBOMA, HEART ANOMALY, CHOANAL ATRESIA, RETARDATION, GENITAL AND EAR ANOMALIES, HHS, HALL-HITTNER SYNDROME, CHARGE SYNDROME, CHARGE syndrome (diagnosis), Associations, CHARGE, Syndrome, CHARGE, Hall-Hittner Syndrome, Hall Hittner Syndrome, Association, CHARGE, CHARGE Syndromes, CHARGE Associations, Syndrome, Hall-Hittner, CHARGE Association, CHARGE Syndrome, charge association, CHARGE Syndrome [Disease/Finding], Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association (disorder), Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association, CHARGE association, CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies, Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome (disorder), Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association, Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome, CHARGE syndrome |
| Dutch | CHARGE-syndroom |
| French | Syndrome de CHARGE, Association CHARGE, Syndrome de Hall-Hittner, Syndrome CHARGE |
| Italian | Sindrome CHARGE, Sindrome di CHARGE |
| Portuguese | Síndrome de CHARGE, Síndrome CHARGE, Associação CHARGE |
| Spanish | asociación CHARGE, asociación CHARGE (trastorno), Síndrome CHARGE, Asociación CHARGE, asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (CHARGE), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (CHARGE) (trastorno), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares (trastorno), asociación de coloboma, malformación cardíaca, atresia de coanas, retraso de crecimiento y desarrollo, anomalías genitales y malformaciones auriculares |
| Japanese | ＣＨＡＲＧＥ症候群, CHARGEｼｮｳｺｳｸﾞﾝ |
| Czech | Syndrom CHARGE, Hallův-Hittnerův syndrom, CHARGE syndrom |
| German | CHARGE-Assoziation, CHARGE-Syndrom, Hall-Hittner-Syndrom |
| Russian | CHARGE SINDROM, CHARGE АССОЦИАЦИИ, CHARGE ASSOTSIATSII, СЕМЕЙНЫЙ CHARGE СИНДРОМ, CHARGE СИНДРОМ, SEMEINYI CHARGE SINDROM |
| Hungarian | Charge-syndroma |
| Polish | Zespół CHARGE, Asocjacja CHARGE, Zespół Halla-Hittnera |
| Norwegian | CHARGE-syndrom |
