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congenital_cataract_etiology [2025/09/29 14:52] – Scott Larsoncongenital_cataract_etiology [2026/02/02 19:34] (current) – Scott Larson
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 ==== Congenital Cataracts and Multiple Congenital Anomalies present ==== ==== Congenital Cataracts and Multiple Congenital Anomalies present ====
 Do Chromosome Analysis to screen for the following: Do Chromosome Analysis to screen for the following:
 +  * [[trisomy_13|Trisomy 13]]
   * [[trisomy_18|Trisomy 18]]   * [[trisomy_18|Trisomy 18]]
   * Trisomy 21   * Trisomy 21
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   * Retinoblastoma   * Retinoblastoma
    
-==== Congenital Cataracts and one organ system abnormality ====+==== Congenital Cataracts and one organ system abnormality or one prominent feature ====
  
 === Short stature or limb abnormalities === === Short stature or limb abnormalities ===
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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
Line 78: Line 80:
   * Fabry disease   * Fabry disease
 === Nail dystrophy === === Nail dystrophy ===
-  * Clouston syndrome (hidrotic ectodermal dysplasia) OMIM #129500+  * [[https://omim.org/entry/129500|Clouston syndrome (hidrotic ectodermal dysplasia) OMIM #129500]]
     * normal sweat and sebaceous gland function     * normal sweat and sebaceous gland function
     * total alopecia     * total alopecia
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     * palmar hyperkeratosis     * palmar hyperkeratosis
     * extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States     * extensive kindred of French extraction that migrated to Canada, Scotland, and northern United States
-  * Nail-Patella syndrome OMIM #161200+  * [[https://www.omim.org/entry/161200 |Nail-Patella syndrome OMIM #161200]]
     * dysplasia of the nails     * dysplasia of the nails
     * absent or hypoplastic patellae (60-90%)     * absent or hypoplastic patellae (60-90%)
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     * keratoconus     * keratoconus
     * glaucoma, microcornea, microphakia     * glaucoma, microcornea, microphakia
-  * Pachyonychia congenita syndrome OMIM #167200 + 
-    * onychogryposis +===Cleft Lip and Palate=== 
-    * hyperkeratosis of the palms, soles, knees and elbows +^Syndrome ^Genetic Basis ^Cleft Lip/Palate ^Congenital Cataract ^Other Features ^References^ 
-    * tiny cutaneous horns in many areas +|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]]| 
-    * eukoplakia of the oral mucous membranes +|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.]]| 
-    * Hyperhidrosis of the hands and feet+|[[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.]]| 
 +|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|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.]]| 
    
 ==== Congenital Cataracts without any other abnormality ==== ==== Congenital Cataracts without any other abnormality ====