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199 Possible Causes for Glaucoma, Hypoplastic Toenails

  • Patau Syndrome

    This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13. Copyright 2010, SLACK Incorporated.[ncbi.nlm.nih.gov] : Bent, narrow and partially hypoplastic (underdeveloped) Malformations and malpositions Polydactylia : Presence of additional fingers Rock bottom feet Sandal gap : Wide spacing[flexikon.doccheck.com] Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other[ncbi.nlm.nih.gov]

  • Nail-Patella Syndrome

    METHODS: One family with NPS and glaucoma was identified from the Glaucoma Inheritance Study in Tasmania.[ncbi.nlm.nih.gov] Abstract Nail-patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients[ncbi.nlm.nih.gov] Other affected toenails have been described as thickened, discolored, thin, dystrophic, and hypoplastic.[clinicaladvisor.com]

  • Hypohidrotic Ectodermal Dysplasia

    […] germ, german, germinoma, geroderma, gerstmann-straussler, gestationis, ghost, giannika, giant, gigantism, gilles, gingival, girdle, gitelman, gland, glandularis, glanzmann, glaucoma[rapsodyonline.eurordis.org] toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800 4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231 5 abnormality of dental[malacards.org] Ocular involvement can result in glaucoma, choroidal hemangioma, bupthalmos, or hemianopis.[vivavoceoralmedicineradiology.com]

  • BOD Syndrome

    Glaucoma is a serious issue, and the most frequent type identified is open angle glaucoma. Ocular hypertension can also be seen.[dermatologyadvisor.com] toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov] Cat-eye syndrome 1.35 BP * 50839 Cat-scratch disease 6.6 P * 1368 Cataract-ataxia-deafness syndrome 2 Cases 1383 Cataract-deafness- hypogonadism syndrome 3 Cases 162 Cataract-glaucoma[azkurs.org]

  • Dubowitz Syndrome

    […] white forelock Orofaciodigital syndrome 8 Fallot complex with severe mental and growth retardation Joubert syndrome Dentin dysplasia sclerotic bones Iris hypoplasia and glaucoma[checkrare.com] toenails Underdeveloped toenails 0001800 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Lymphoma Cancer of lymphatic system 0002665 Malabsorption[rarediseases.info.nih.gov] toenails Joint hyperflexibility Lymphoma Malabsorption Metatarsus adductus Myopia Nystagmus Pectus excavatum Rectal prolapse Sacral dimple Scoliosis Seizures Spina bifida[dovemed.com]

  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    , Primary Congenital Glaucoma 1, Open Angle, E Glaucoma 1, Open Angle, E, Glaucoma, Normal Tension Glaucoma 1A, Open Angle Glaucoma 1A, Primary Open Angle Glaucoma 1A, Primary[sequencing.com] Related phenotypes are aganglionic megacolon and aplastic/hypoplastic toenail Description from OMIM: 306980[malacards.org] Showing of 8 80%-99% of people have these symptoms Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Aplastic/hypoplastic toenail Absent/small toenails Absent[rarediseases.info.nih.gov]

  • Zellweger Syndrome

    Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur.[ninds.nih.gov] We report here on a Turkish patient who presented with unusual clinical findings, that included non-immune hydrops, dermal erythropoiesis and hypoplastic toenails, as well[ncbi.nlm.nih.gov] […] imperfect myelinisation of nerve tracts, microgyria, abnormal skull, mental and growth retardation, calcific deposits in long bones, craniofacial malformations, hypospadias, glaucoma[whonamedit.com]

  • Congenital Ankyloblepharon

    The ophthalmic association of AFA is iridogoniodysgenesis with juvenile glaucoma .[dailyrounds.org] toenails Phimosis Low alkaline phosphatase Growth hormone deficiency Contiguous gene syndrome Cystinuria Neonatal hypoglycemia Severe failure to thrive Central hypotonia[mendelian.co] ; and updated surgical procedures and methods, including oculoplastic, corneal, and glaucoma surgery.[books.google.com]

  • Schneckenbecken Dysplasia

    , Glaucoma, primary congenital AR 21 27 NPR2 Acromesomelic dysplasia type Maroteaux, Epiphyseal chondrodysplasia, Miura, Short stature with nonspecific skeletal abnormalities[blueprintgenetics.com] toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and symptoms may be present: Anterior rib cupping Advanced ossification[dovemed.com] toenails Underdeveloped toenails 0001800 5%-29% of people have these symptoms Accelerated skeletal maturation Advanced bone age Early bone maturation [ more ] 0005616 Advanced[rarediseases.info.nih.gov]

  • Oculo-Osteo-Cutaneous Syndrome

    Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone Dyggve-Melchior-Clausen disease Dysmyelinating Leukodystrophy with Oligodontia Dyssegmental Dysplasia with Glaucoma[rgd.mcw.edu] […] or absent fifth fingernails or toenails.[mendelian.co] These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure[ncbi.nlm.nih.gov]

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