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congenital_cataract_etiology [2025/10/27 12:49] – Scott Larsoncongenital_cataract_etiology [2026/07/28 13:29] (current) – Scott Larson
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   * Cockayne syndrome: microcephaly   * Cockayne syndrome: microcephaly
   * Fetal rubella syndrome: microcephaly   * Fetal rubella syndrome: microcephaly
-  * Marinesco-Sjögren syndrome: microcephaly+  * [[marinesco-sjogren_syndrome|Marinesco-Sjögren syndrome]]: microcephaly
   * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447/|Mowat-Wilson syndrome]]   * [[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2174447/|Mowat-Wilson syndrome]]
   * Rubenstein-Taybi syndrome: microcephaly   * Rubenstein-Taybi syndrome: microcephaly
Line 51: Line 51:
     * 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
Line 106: Line 107:
 |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.]]|