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| congenital_cataract_etiology [2025/10/27 18:35] – Scott Larson | congenital_cataract_etiology [2026/02/02 19:34] (current) – Scott Larson |
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| * Fetal warfarin exposure | * Fetal warfarin exposure |
| * Mannosidosis | * Mannosidosis |
| * Marshall-Stickler syndrome | * Marshall syndrome |
| | * [[stickler_syndrome|Stickler syndrome]] |
| * Schwartz-Jampel syndrome | * Schwartz-Jampel syndrome |
| * Limb anomalities | * Limb anomalities |
| |Peter's Plus |B3GALTL |Yes |Yes |Short limbs, ID, heart defects | [[https://www.sciencedirect.com/science/article/abs/pii/S0003399502011206?via%3Dihub |Liesbeth J.J.M. et al. The Peters’ plus syndrome: a review, Annales de Génétique 2002; 45(2):97-103]]| | |Peter's Plus |B3GALTL |Yes |Yes |Short limbs, ID, heart defects | [[https://www.sciencedirect.com/science/article/abs/pii/S0003399502011206?via%3Dihub |Liesbeth J.J.M. et al. The Peters’ plus syndrome: a review, Annales de Génétique 2002; 45(2):97-103]]| |
| |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features | [[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology. 2021;139(7):691-700.]]| | |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features | [[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology. 2021;139(7):691-700.]]| |
| |OFCD |BCOR |Yes (palate) |Yes |Cardiac, limb anomalies |[[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology. 2021;139(7):691-700.]]| | |[[oculofacialcardiodental_syndrome| Oculofaciocardiodental syndrome (OFCD)]] |BCOR |Yes (palate) |Yes |Cardiac, limb anomalies |[[https://jamanetwork.com/journals/jamaophthalmology/fullarticle/10.1001/jamaophthalmol.2021.0385?utm_source=openevidence&utm_medium=referral.|Rechsteiner D et al. Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract. JAMA Ophthalmology. 2021;139(7):691-700.]]| |
| |Stickler |COL2A1, COL11A1 |Yes (palate) |Yes |Myopia, hearing loss, arthritis | [[https://pubmed.ncbi.nlm.nih.gov/121911|Hall JG, Herrod H. The Stickler Syndrome Presenting as a Dominantly Inherited Cleft Palate and Blindness. 9. Journal of Medical Genetics. 1975;12(4):397-400.]]| | |Stickler |COL2A1, COL11A1 |Yes (palate) |Yes |Myopia, hearing loss, arthritis | [[https://pubmed.ncbi.nlm.nih.gov/121911|Hall JG, Herrod H. The Stickler Syndrome Presenting as a Dominantly Inherited Cleft Palate and Blindness. 9. Journal of Medical Genetics. 1975;12(4):397-400.]]| |
| |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555769/ |Pierpont ME, et al. Genetic Basis for Congenital Heart Disease. Circulation. 2018;138(21):e653-e711.]]| | |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |[[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6555769/ |Pierpont ME, et al. Genetic Basis for Congenital Heart Disease. Circulation. 2018;138(21):e653-e711.]]| |
| |Trisomy 13 |Chromosomal |Yes |Yes |Multiple anomalies |[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts. American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]| | |[[trisomy_13|Trisomy 13]] |Chromosomal |Yes |Yes |Multiple anomalies |[[https://pubmed.ncbi.nlm.nih.gov/35179301| Stoll C,et al. Co-Occurring Anomalies in Congenital Oral Clefts. American Journal of Medical Genetics. Part A. 2022;188(6):1700-1715.]]| |
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