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79 Possible Causes for Microphallus, Microphthalmos, Myopia

  • Laurence Moon Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts • Usher’s Syndrome • Myopia[pinterest.cl] On examination, she has high myopia with BCVA 6/60 with -7.0 D Sphere in both eyes. She has alternate exotropia of 30 diopters, deep set eyes and flat nose.[medresearch.in]

  • Coloboma

    […] ear Progressive hearing impairment Retinal detachment Vesicoureteral reflux Low-set, posteriorly rotated ears Bimanual synkinesia Ichthyosis Hypotrichosis Prostate cancer Microphallus[mendelian.co] Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos (VA 3/60: 66.7% vs. 23.3%; unable to read N10: 66.7% vs. 34.1 %; no navigational[ncbi.nlm.nih.gov] He had recently noticed difficulty with distance vision and was found to have mild symmetric myopia. Best-corrected visual acuity was 20/20 in each eye.[link.springer.com]

  • CHARGE Syndrome

    Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[encyclopedia.com] A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.[ncbi.nlm.nih.gov] Coloboma The symptoms associated with colombia are: Impaired vision (myopia and/or far-sightedness) Photophobia (sensitive to bright light) Complete Blindness These symptoms[syndromespedia.com]

  • Acrootoocular Syndrome

    […] imperforate anus, renal anomalies (renal hypoplasia or agenesis), limb anomalies (polydactyly, short limbs, syndactyly and nail dysplasia) and genitourinary abnormalities (microphallus[academic.oup.com] […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[eyewiki.org]

  • Moebius Syndrome

    […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] Severe myopia (-8 diopters), shortness of the neck and torticollis have been found and was investigated accordingly (Figures 4, 5, 6 ).[doi.org] Q87.0 Acrocephalosyndactyly Q87.0 Aglossia-adactylia syndrome Q87.0 Apert's syndrome Q87.0 Carpenter's syndrome Q87.0 Cryptophthalmos Q11.2 ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com]

  • Woodhouse Sakati Syndrome

    […] imperfecta type 3 Pyruvate kinase deficiency Familial thoracic aortic aneurysm and dissection Frank Ter Haar syndrome STAR syndrome Nablus mask-like facial syndrome Microcephaly microphthalmos[checkrare.com] At the age of 20 years,he was found to have myopia and moderate sensorineural hearingloss. The family reported partial frontal alopecia since early child-hood.[docslide.com.br] […] and brachytelephalangy Popliteal pterygium syndrome Lowry Wood syndrome Jeune syndrome Blepharoptosis myopia ectopia lentis Progressive osseous heteroplasia Yemenite deaf-blind[checkrare.com]

  • Brachydactyly Coloboma and Anterior Segment Dysgenesis

    […] seizures Holoprosencephaly Happy demeanor Abnormal corpus callosum morphology Unilateral renal agenesis Hypopituitarism Ectrodactyly Periventricular leukomalacia Heterotopia Microphallus[mendelian.co] This abnormality is a form of microphthalmos because it occurs after the formation of the optic vesicle and because the affected eye is usually small.[entokey.com] AD/-/154600 MARFAN SYNDROME/Ectopia lentis, myopia /AD/FBN1/#154700 MASS SYNDROME (OVERLAP CONNECTIVE TISSUE DISEASE)/Myopia/-/FBN1/#604308 MECKEL SYNDROME/Iris colobma, hypertelorism[eyewiki.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Methylmalonic Aciduria, cblB type Methylmalonic Aciduria and Homocystinuria, cblC Type Methylmalonic Aciduria, mut(0) Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus[sequencing.com] […] modeling causing the ends of the shafts to remain larger than normal in circumference. oculodentodigital dysplasia a rare hereditary condition, characterized by bilateral microphthalmos[medical-dictionary.thefreedictionary.com] Dyschondrosteosis and Nephritis Ectodermal Dysplasia, Trichoodontoonychial Type Eiken Skeletal Dysplasia Ellis-Van Creveld syndrome Epiphyseal Dysplasia of Femoral Head, Myopia[rgd.mcw.edu]

  • Nivelon-Nivelon-Mabille Syndrome

    Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal[mendelian.co] […] epilepsy Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome Microcephaly microcornea syndrome Seemanova type Microcephaly micropenis convulsions Microcephaly microphthalmos[sosu.us] Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral[orpha.net]

  • Camptodactyly Syndrome Type Guadalajara III

    […] central nervous system Elevated 8-dehydrocholesterol Elevated 8(9)-cholestenol Occipital encephalocele Femoral hernia Single umbilical artery Convex nasal ridge Bilateral microphthalmos[mendelian.co] Retardation Syndrome 1 Hypertelorism and Tetralogy of Fallot HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS Hypertelorism, Severe, with Midface Prominence, Myopia[rgd.mcw.edu] • Camptodactyly-joint contracture-facial anomalies-skeletal • Camptodactyly-muscular hypoplasia-skeletal dysplasia-abnormal palmar creases (Tel-Hashomer) • Camptodactyly-myopia-fibrosis[rrnursingschool.biz]

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