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687 Possible Causes for Chorioretinopathy, Hypertelorism

  • Aicardi's Syndrome

    ) are reported together with other unusual cases (isolated lacunar chorioretinopathy).[ncbi.nlm.nih.gov] The constant features of this syndrome are infantile spasms, chorioretinopathy, and agenesis of the corpus callosum.[ncbi.nlm.nih.gov] Features of Aicardi's syndrome include infantile spasms associated with pathognomonic chorioretinopathy, abnormalities of the corpus callosum with heterotopia of gray matter[ncbi.nlm.nih.gov]

  • Neonatal Adrenoleukodystrophy

    Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts.[orpha.net] Facial dysmorphism (50%) with hypertelorism, epicanthus, low nasal bridge, and low-set ears may be present. Some children have polydactyly and hepatomegaly.[rarediseases.info.nih.gov] Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts .[rarediseases.info.nih.gov]

  • Melhem-Fahl Syndrome

    1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome Microcephaly Seizures Mental Retardation Heart Disorders microcephaly[rgd.mcw.edu] Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy[statemaster.com] Features distinguishing Weaver syndrome from Sotos syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep-set nails, retrognathia[en.wikipedia.org]

  • Mononen-Karnes-Senac Syndrome

    […] anomalies syndrome 3 Cases 457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 14 Cases 2526 Microcephaly-lymphedema- chorioretinopathy[azkurs.org] Schwartz- Lelek syndrome 0 *Bone Diseases, Developmental *Hypertelorism *Hyperostosis *Craniofacial Abnormalities.[reference.md] Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy[mindmappedia.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Microcephaly seizures mental retardation heart disorders Microcephaly sparse hair mental retardation seizures Microcephaly syndactyly brachymesophalangy Microcephaly with chorioretinopathy[en.wikipedia.org] […] and tetralogy of Fallot Hypertelorism hypospadias syndrome Hypertension Hypertensive hyperkalemia, familial Hypertensive hypokalemia familial Hypertensive retinopathy Hyperthermia[sosu.us] Microcephaly chorioretinopathy recessive form[?] Microcephaly cleft palate autosomal dominant[?] Microcephaly deafness syndrome[?][encyclopedia.kids.net.au]

  • Acrootoocular Syndrome

    , retinal angiomatous proliferation, parafoveal telangiectasia Others such as choroidal hemangioma, retinal hamartoma, choroidal melanoma, chronic central serous chorioretinopathy[eophtha.com] BEARE-STEVENSON SYNDROME/Proptosis, hypertelorism, downslanting palpebral fissures/AD/FGFR2/#123790 BECKWITH-WIEDEMANN SYNDROME/Deep-set eyes, hypertelorism, epicanthal folds[eyewiki.org] 1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Deafness Syndrome microcephaly with or without chorioretinopathy, lymphedema, or[rgd.mcw.edu]

  • Chudley-Rozdilsky Syndrome

    Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy[rgd.mcw.edu] Facial anomalies may include microcephaly, thickening of the skull, hemifacial microsomia, enlarged frontal sinuses, microtia, atretic ear canal, hypertelorism, blepharoptosis[accessanesthesiology.mhmedical.com] Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism: 60 33 (show all 35) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 hypertelorism[malacards.org]

  • Pseudoaminopterin Syndrome

    Chorioretinopathy is remarkably similar to that seen in fetal toxoplasmosis (McKusick et al. 1966; Schmidt et al. 1968).[rrnursingschool.biz] […] has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular hypertelorism[ncbi.nlm.nih.gov] It is characterized by skull ( craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia ... 1 ..[familydiagnosis.com]

  • Qazi-Markouizos Syndrome

    1 microcephaly and chorioretinopathy 2 microcephaly and chorioretinopathy 3 Microcephaly Cervical Spine Fusion Anomalies Microcephaly Deafness Syndrome Microcephaly Microphthalmos[rgd.mcw.edu] Delayed bone age Abnormal bone development Abnormal dermatoglyphics Abnormality of bone mineral density Cognitive impairment Constipation Cryptorchidism Highly arched eyebrow Hypertelorism[qa.virinchihospitals.com] […] than type II fibers (normally about the same size), and a predominance of type I fibers by numbers (normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism[accessanesthesiology.mhmedical.com]

  • Bonnemann-Meinecke-Reich Syndrome

    […] indication of following conditions: Aceruloplasminemia Adrenoleukodystrophy Alstrom disease Asphyxiating Thoracic Dystrophy Bonneman-Meinecke-Reich syndrome CDG syndrome type 1A Chorioretinopathy[altiusdirectory.com] Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism[mendelian.co] Birdshot chorioretinopathy[?] Birt-Hogg-Dube syndrome[?] Bixler Christian Gorlin syndrome[?] Bjornstad syndrome[?] Bladder neoplasm[?] Blaichman syndrome[?] Blastoma[?][encyclopedia.kids.net.au]

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