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| congenital_cataract_etiology [2025/10/27 14:38] – Scott Larson | congenital_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 |
| === Short stature or limb abnormalities === | === Short stature or limb abnormalities === | ||
| Line 50: | Line 51: | ||
| * Fetal warfarin exposure | * Fetal warfarin exposure | ||
| * Mannosidosis | * Mannosidosis | ||
| - | * Marshall-Stickler syndrome | + | * Marshall |
| + | * [[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:// |
| * 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:// |
| * 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, | * glaucoma, microcornea, | ||
| - | * Pachyonychia congenita syndrome OMIM #167200 | ||
| - | * onychogryposis | ||
| - | * hyperkeratosis of the palms, soles, knees and elbows | ||
| - | * tiny cutaneous horns in many areas | ||
| - | * eukoplakia of the oral mucous membranes | ||
| - | * Hyperhidrosis of the hands and feet | ||
| ===Cleft Lip and Palate=== | ===Cleft Lip and Palate=== | ||
| - | |Syndrome |Genetic Basis |Cleft Lip/Palate |Congenital Cataract |Other Features |References| | + | ^Syndrome ^Genetic Basis ^Cleft Lip/Palate ^Congenital Cataract ^Other Features ^References^ |
| - | |Peter' | + | |Peter' |
| - | |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features |Pierpont ME, Brueckner M, Chung WK, et al. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. https:// | + | |Nance-Horan |NHS| Sometimes |Yes |Dental anomalies, facial features | |
| - | |OFCD |BCOR |Yes (palate) |Yes |Cardiac, | + | |[[oculofacialcardiodental_syndrome| Oculofaciocardiodental syndrome (OFCD)]] |BCOR |Yes (palate) |Yes |Cardiac, |
| - | |Stickler |COL2A1, | + | |Stickler |COL2A1, |
| - | |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |Pierpont ME, Brueckner M, Chung WK, et al. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. | + | |Roberts |ESCO2 |Yes |Yes |Limb reduction, growth deficiency |[[https:// |
| - | |Trisomy 13 |Chromosomal |Yes |Yes |Multiple anomalies |Stoll C, Alembik Y, Roth MP. Co-Occurring Anomalies in Congenital Oral Clefts. | + | |[[trisomy_13|Trisomy 13]] |Chromosomal |Yes |Yes |Multiple anomalies |[[https:// |