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4,546 Possible Causes for Glaucoma, Holoprosencephaly, Syndactyly between Adjacent Toes

  • 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] Alobar holoprosencephaly and Trisomy 13 (Patau syndrome). Autopsy and Case Reports, 3 (2), 5-10.[revistas.usp.br] […] corpus callosum enlarged cisterna magna Eye malformations: Coloboma : Gap formation of the iris, lense or choroid Retinaal abnormalities Cataract : Opacification of the lense Glaucoma[flexikon.doccheck.com]

    Missing: Syndactyly between Adjacent Toes
  • Craniosynostosis Type 3

    […] pustular psoriasis Genetic hyperparathyroidism Genetic neuromuscular disease Genetic peripheral neuropathy Genetic syndromic Pierre Robin syndrome Giant axonal neuropathy Glaucoma[sanfordresearch.org] Examples of these defects include hydrocephalus, holoprosencephaly, multicystic renal dysplasia and severe hydrops.[sonoworld.com] Ophthalmological disorders Most commonly: Cataracts Refractive errors Strabismus Nystagmus Congenital glaucoma Keratoconus Gastrointestinal disorders Oesophageal atresia or[patient.info]

  • Pallister-Hall Syndrome

    Avoid with heart disease, narrow-angel glaucoma, intestinal colic, or long QT interval syndrome.[livingnaturallyonline.com] ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] The spectrum of these anomalies is wide, ranging from alobar holoprosencephaly to microforms, such as isolated single central medial incisive, or cleft palate.[atlasgeneticsoncology.org]

  • Diabetes Mellitus

    Glaucoma, cupping of the optic disk on funduscopic examination. Glaucoma with excavation of the optic cup, microscopic. Cataract of the crystalline lens, gross.[library.med.utah.edu] The child also underwent magnetic resonance imaging of his brain which revealed distinctive features of semilobar holoprosencephaly.[ncbi.nlm.nih.gov] Diabetes also increases your risk of having glaucoma, cataracts, and other eye problems.[medlineplus.gov]

    Missing: Syndactyly between Adjacent Toes
  • Colobomatous Microphthalmia

    Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com] Isolated anophthalmia - microphthalmia Isolated Klippel-Feil syndrome Alobar holoprosencephaly Lobar holoprosencephaly Microform holoprosencephaly Midline interhemispheric[csbg.cnb.csic.es] Featured surgeries include: plastics, glaucoma, intraocular contact lens refractive, strabismus, and various techniques of cataract/IOL implantation.[books.google.com]

    Missing: Syndactyly between Adjacent Toes
  • Anophthalmia - Microphthalmia Syndrome

    Early-onset non-syndromic cataract Early-onset partial cataract Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Hereditary glaucoma Idiopathic anterior[se-atlas.de] 2 HPE2 157170 Genetic Test Registry Holoprosencephaly 3 HPE3 HLP3 142945 Genetic Test Registry Holoprosencephaly 5 HPE5 609637 Genetic Test Registry Microphthalmia With Limb[ukgtn.nhs.uk] […] syndrome Goldenhar syndrome Gorlin syndrome Lenz syndrome microphthalmia microcephaly syndrome Pierre Robin syndrome Treacher Collins syndrome non aneuploidic non syndromic holoprosencephaly[radiopaedia.org]

    Missing: Syndactyly between Adjacent Toes
  • Isolated optic nerve hypoplasia

    Anterior Chamber Brain and Optical Pathway Choroid Congenital Syndromes, Malformations and Abnomalities Conjunctiva Cornea Glaucomas, Ocular Hypertension Hypertensive Retinopathy[atlasophthalmology.com] […] variant of holoprosencephaly Monosomy 13q14 Schizencephaly Semilobar holoprosencephaly Septopreoptic holoprosencephaly Unilateral retinoblastoma Anophthalmia / microphthalmia[csbg.cnb.csic.es] ( 30541351 ) Kurent A...Stirn-Kranjc B 2018 3 Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma[malacards.org]

    Missing: Syndactyly between Adjacent Toes
  • Pierre Robin Syndrome

    […] the face characterized by micrognathia, abnormal smallness of the tongue, cleft palate, and absence of the gag reflex and sometimes accompanied by bilateral eye defects, glaucoma[merriam-webster.com] MRI or CT scans of the head may reveal a holoprosencephaly or other brain related problems (Rosa et al. 2011 ).[doi.org] After encountering a 2-month-old white boy with Pierre Robin syndrome and severe bilateral congenital glaucoma, our attention was directed to ocular involvement in these cases[jamanetwork.com]

    Missing: Syndactyly between Adjacent Toes
  • Rieger Syndrome

    Approximately 75% of ARS patients with FOXC1 mutations develop earlier-onset glaucoma.[ncbi.nlm.nih.gov] Hereditary Familiäres Paragangliom-Phäochromocytom-Syndrom SDHB, SDHC, SDHD, MAX, SDHAF2, SDHAF1, TMEM127 Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Holoprosencephalie[meduniwien.ac.at] A novel homozygous variant (c.92_100del; p.Ala31_Ala33del) in the FOXC1 gene segregated in a Pakistani family with ARS and congenital glaucoma.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Isolated Congenital Sclerocornea

    Glaucoma, Second Edition is the most comprehensive resource in the field delivering expert guidance for the most timely and effective diagnosis and treatment of glaucoma[books.google.de] 2 HPE2 157170 Genetic Test Registry Holoprosencephaly 7 HPE7 610828 Genetic Test Registry Homocystinuria Due To Cystathionine Beta-Synthase Deficiency Cbs Deficiency Cystathionine[ukgtn.nhs.uk] . – Holoprosencephaly 2: caused by SIX3 mutations. – Septooptic dysplasia: caused by HESX 1 mutations. – Aniridia: caused by PAX6 mutations. – CHARGE syndrome: caused by CHD[bredagenetics.com]

    Missing: Syndactyly between Adjacent Toes

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