Optic Dysplasia Causes & Reasons

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Optic Dysplasia Symptom Checker: Possible causes include Isolated optic nerve hypoplasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Isolated optic nerve hypoplasia

The identification and measurement of autistic features in children with optic nerve hypoplasia, "isolated" hypopituitarism and varying combinations of septo-optic Dysplasia [etheses.bham.ac.uk]

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterized by optic nerve hypoplasia and absence of septum pellucidum and, in two-thirds [radiopaedia.org]

If the pituitary is involved then it may be termed septo-optic-pituitary dysplasia. [meducator3.net]

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Septo-Optic Dysplasia

Septo-optic dysplasia is a highly variable disorder. It is rare for siblings to present with identical features of the septo-optic dysplasia spectrum. [en.wikipedia.org]

Septo-optic dysplasia is a disorder of early brain development. [ghr.nlm.nih.gov]

[…] brain defects that has material basis in mutation in the HESX1 gene on chromosome 3p14 septooptic dysplasia septo-optic dysplasia De Morsier syndrome SOD edit English Septo-optic [wikidata.org]

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Familial Porencephaly

Additionally, there is blindness if the condition is associated with septo-optic dysplasia. Recurrence: No increased risk of recurrence. [fetalmedicine.org]

Hypoplasia of the optic nerves and midline brain abnormality (agenesis of the septum pellucidum) may also be present ('septo-optic dysplasia plus'). [epilepsydiagnosis.org]

dysplasia. ( 24761255 ) Bhatnagar S....Kulkarni V. 2014 26 Successful Treatment of Refractory Seizures With Rufinamide in Children With Schizencephaly: Report of 3 Cases. [malacards.org]

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Congenital Optic Disc Coloboma

optic nerve dysplasia. [dusunenadamdergisi.org]

dysplasia • Tilted optic disc • Optic disc drusen • Optic disc pit • Myelinated nerve fibres Page 2 CONGENITAL OPTIC NERVE ANOMALIES 1. [edurev.in]

With systemic associations Optic disc coloboma Morning glory anomaly Optic nerve hypoplasia Aicardi syndrome Megalopapilla Peripapillary staphyloma Optic disc dysplasia 2 [powershow.com]

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Renal Coloboma Syndrome

We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. [ncbi.nlm.nih.gov]

In all affected individuals, signs of optic disk dysplasia were detected, but most patients were asymptomatic. [ncbi.nlm.nih.gov]

An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene. [en.wikipedia.org]

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Common Cold

[…] glioma, a distinc- tive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis, and a first degree relative with NF1. [lijecnicki-vjesnik.hlz.hr]

[…] least two of the following 7 diagnostic criteria: six or more caféau- lait macules over 15 mm in diameter, two or more neurofibromas, axillary and/or inguinal freckles, optic [degruyter.com]

[…] or more of the following criteria: six or more café au lait spots, 2 neurofibromas of any type or 1 plexiform neurofibroma, freckling in the axillary or inguinal region, optic [lijecnicki-vjesnik.hlz.hr]

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Basal Encephalocele

Two additional disc anomalies that are associated with basal encephalocele are megalopapilla and optic nerve dysplasia. [ncbi.nlm.nih.gov]

The patient had bilateral optic disc dysplasia in association with a basal encephalocele, but had no midline facial anomalies. [ncbi.nlm.nih.gov]

BACKGROUND: Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele. [ncbi.nlm.nih.gov]

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Panhypopituitarism

OBJECTIVE: There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia [ncbi.nlm.nih.gov]

dysplasia (de Morsier syndrome) Holoprosencephaly There's more to see -- the rest of this entry is available only to subscribers. [unboundmedicine.com]

Children with congenital midline defects or optic atrophy (which suggests the presence of septo-optic dysplasia) and boys with micropenis due to deficit gonadotropin hormones [symptoma.com]

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Arhinencephaly

Similars Q04.0 - Congenital malformations of corpus callosum Q04.1 - Arhinencephaly Q04.2 - Holoprosencephaly Q04.3 - Other reduction deformities of brain Q04.4 - Septo-optic [icd-code.org]

Other congenital malformations of brain Q04.0 Congenital malformations of corpus callosum Q04.2 Holoprosencephaly Q04.3 Other reduction deformities of brain Q04.4 Septo-optic [healthprovidersdata.com]

/ similar specificity) of Q04.1: Q04.0 - Congenital malformations of corpus callosum Q04.2 - Holoprosencephaly Q04.3 - Other reduction deformities of brain Q04.4 - Septo-optic [emedcodes.com]

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Vitreoretinochoroidopathy

Optic nerve dysplasia and iris dysgenesis are novel observations that extend the ocular phenotype of ADVIRC. [ncbi.nlm.nih.gov]

Bilateral optic nerve dysplasia was noted in one (case IV2; Figure 2b ). [nature.com]

[…] nerve dysplasia (n 1). [ncbi.nlm.nih.gov]

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Hypopituitarism

[…] septo-optic dysplasia. [ncbi.nlm.nih.gov]

dysplasia spectrum The documents contained in this web site are presented for information purposes only. [orpha.net]

ORPHA:2243 Synonym(s): - Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: - MeSH: - GARD: 2918 MedDRA: - Summary This disease has been moved to Septo-optic [orpha.net]

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Aqueduct of Sylvius Anomaly

Isolated agenesis of the septum pellucidum may be a normal variant, although it may be the only antenatal finding of septo-optic dysplasia, a condtiion that is usually associated [obgyn.mhmedical.com]

dysplasia of brain Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. [icd10data.com]

dysplasia of brain Major Diagnostic Categories M.D.C MDC Category : 01 15 MDC Type : Medical Description : Diseases and Disorders of the Nervous System Newborn And Other [codelay.com]

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Warburg Micro Syndrome 3

dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. [malacards.org]

OMIM : 57 Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical [malacards.org]

Definition A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum [uniprot.org]

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Growth Hormone Deficiency

Congenital Genetic (see “Genetics”) Structural brain defects Agenesis of corpus callosum Septo-optic dysplasia Empty sella syndrome Encephalocele Hydrocephalus Arachnoid cyst [unboundmedicine.com]

We know that growth hormone deficiency is not inherited and that it can be present at birth or develop later in childhood alongside other conditions, such as septo-optic dysplasia [gosh.nhs.uk]

• SOD (septo-optic dysplasia) • Cleft lip & Palate • Empty sella syndrome • Horencephaly and anencephaly • Pituitary hypoplasia & aplasia • Thin or absent pituitary stalk [slideshare.net]

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Pituitary Dwarfism

Abstract The cause of a seventeen-year-old female patient with septo-optic dysplasia and pituitary dwarfism is presented. [ncbi.nlm.nih.gov]

An ectopic posterior pituitary lobe can also be seen in cases of pituitary stalk transection and septo-optic dysplasia and as an asymptomatic variant. [roentgenrayreader.blogspot.com]

The most common triggers for GH deficiency are neoplasias, septo-optic dysplasia and other, not classified CNS malformations. [symptoma.com]

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Frontonasal Dysplasia

This is known to be associated with midline problems as in de Morsier’s syndrome of septo-optic dysplasia. [bjo.bmj.com]

Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital [books.google.com]

To document the optic disc abnormalities in patients with frontonasal dysplasia in association with basal encephalocele. [ncbi.nlm.nih.gov]

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Hypogonadism

dysplasia 2 MRI MRI is the modality of choice in assessing for the absence of olfactory bulbs, and coronal T2 sequences are most effective. [radiopaedia.org]

Panhypopituitarism may occur congenitally or anatomically (eg, in septo-optic dysplasia or Dandy-Walker malformation), causing deficiency of hypothalamic-releasing factors [msdmanuals.com]

Androl.20(1),23–28 (1997).Crossref, Medline, CAS, Google Scholar 42 Webb EA, Dattani MT: Septo-optic dysplasia. Eur. J. Hum. [futuremedicine.com]

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Neonatal Adrenoleukodystrophy

Eye findings include chorioretinopathy, optic nerve dysplasia and cataracts. [orpha.net]

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Fibrous Dysplasia

BACKGROUND: Fibrous dysplasia (FD) of the skull base can manifest with optic nerve compression. [ncbi.nlm.nih.gov]

CONCLUSIONS: Therapeutic optic nerve unroofing is advocated in fibrous dysplasia patients with continuous deterioration of vision. [ncbi.nlm.nih.gov]

Optic nerve decompression in cranial base fibrous dysplasia. J Craniofac Surg 6 : 5 – 14, 1995. 12. [doi.org]

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Hyperventilation

dysplasia spectrum The documents contained in this web site are presented for information purposes only. [orpha.net]

Kaplowitz-Bodurtha syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: - UMLS: C2931361 MeSH: - GARD: - MedDRA: - Summary This disease has been moved to Septo-optic [orpha.net]

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Aprosencephaly and Cerebellar Dysgenesis

Other conditions included in the spectrum are the middle interhemispheric variant (Syntelencephaly) and septo-optic dysplasia.(2) The spectrum starts with aprosencephaly [neuroradiologysilan.com]

Dysplasia Chapter 30: Syntelencephaly Chapter 31: Schizencephaly Chapter 32: Lissencephaly Chapter 33: Gray Matter Heterotopia Chapter 34: Pachygyria, Polymicrogyria Chapter [inkling.com]

Leech and Shuman (10) suggested that aprosencephaly, holoprosencephaly, septo-optic dysplasia, and agenesis of the corpus callosum constitute a spectrum of anomalies caused [ajnr.org]

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Iatrogenic or Traumatic Pituitary Deficiency

Genetic causes - eg, PIT1, PROP1 gene mutations, septo-optic dysplasia. Idiopathic causes. [patient.info]

optic dysplasia ii) Prader- willi syndrome iii) Kallmann syndrome iv) Laurence-moon-beidl syndrome 2. [slideshare.net]

dysplasia ) 182230 HESX1 Kallmann syndrome causes deficiency of the gonadotropins only. [en.wikipedia.org]

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Growth Failure

cleft palate, septo-optic dysplasia, or holoprosencephaly). [hawaii.edu]

History was remarkable for septo-optic dysplasia diagnosed at 15 months of age. The MRI had showed bilateral optic nerve hypoplasia and absence of septum pellucidum. [cmecorner.com]

septo-optic dysplasia, posterior pituitary ectopia) Chronic kidney disease [10] intracranial tumors in or near the sella turcica, especially craniopharyngioma damage to [en.m.wikipedia.org]

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Anophthalmia - Microphthalmia Syndrome

Keywords: Anophthalmia, computed tomography, septo-optic dysplasia How to cite this article: Jana M, Sharma S. Bilateral anophthalmia with septo-optic dysplasia. [ojoonline.org]

dysplasia. [blueprintgenetics.com]

DYSPLASIA (DE MORSIER SYNDROME) Optic nerve hypoplasia, nystagmus AD, AR, sporadic HESX1, OTX2, SOX2 #182230 SHASHI X-LINKED MENTAL RETARDATION SYNDROME (MENTAL RETARDATION [eyewiki.aao.org]

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Coloboma of Optic Papilla

Sixteen eyes of 9 patients with optic nerve ... Relevancy Score: 223 Wilson P W - - 1978 A 21-year-old man demonstrated septo-optic dysplasia. [biomedsearch.com]

(Also known as/Synonyms) Congenital Optic Disc Dysplasia MGS (Morning Glory Syndrome) Morning Glory Optic Disc Anomaly What is Morning Glory Syndrome? [dovemed.com]

Mikropapille Morning Glory Disc Anomaly Optic Disc Dysplasia Optic Disc Hypoplasia Optic Nerve Head Drusen Optic Nerve Pit Peripapillary Staphyloma Pit of Optic Nerve Head [atlasophthalmology.net]

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Pseudo-Zellweger Syndrome

Chromosome 3 Protein S deficiency Pseudo-Zellweger syndrome Retinitis pigmentosa Romano–Ward syndrome Seckel syndrome Sensenbrenner syndrome Septo-optic dysplasia List of [wikiwand.com]

dysplasia Spinocerebellar ataxia Osteoarthritis T-cell leukemia translocation altered gene Blepharophimosis, epicanthus inversus, and ptosis Blepharophimosis, epicanthus [news-medical.net]

[…] cataract Propionic acidemia Protein S deficiency Pseudo-Zellweger syndrome Pyruvate dehydrogenase E1-beta deficiency Resistance to thyroid hormone Romano-Ward syndrome Septo-optic [news-medical.net]

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Fibroma

Optic glioma. Two or more Lisch nodules / small masses on the iris of the eyes. Bone lesions, called sphenoid dysplasia. [slideshare.net]

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Pituitary Disorder

Dysplasia (National Institute of Neurological Disorders and Stroke) Genetics Genetics Home Reference: combined pituitary hormone deficiency (National Library of Medicine) [medlineplus.gov]

Galactorrhea (American Academy of Family Physicians) Also in Spanish Hyperprolactinemia (Hormone Health Network) Also in Spanish Hypopituitarism (Hormone Health Network) Septo-Optic [medlineplus.gov]

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Congenital Malformation of the Inner Ear

[…] syndrome Myeloid neoplasm associated with FGFR1 rearrangement Normosmic congenital hypogonadotropic hypogonadism Oligodontia Osteoglophonic dwarfism Pilocytic astrocytoma Septo-optic [csbg.cnb.csic.es]

dysplasia Severe achondroplasia - developmental delay - acanthosis nigricans Thanatophoric dysplasia type 1 Thanatophoric dysplasia type 2 Synonym(s): - LAMM syndrome - Microdontia [csbg.cnb.csic.es]

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Autosomal Recessive Isolated Optic Atrophy

Septo-optic dysplasia, also known as de Morsier syndrome, is one of the more common bilateral optic nerve hypoplasia syndromes. [mhmedical.com]

dysplasia, and cerebral visual impairment. [bcm.edu]

Genetics of septo-optic dysplasia. Pituitary 2007;10:393-407. 16. Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet 2010;18:393-7. 17. [ijri.org]

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