Heart defects Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus
[cytogenx.com]
most well known associated CNS anomaly: 40-50% 9 microcephaly fetal hydrocephalus enlarged cisterna magna agenesis of the corpus callosum persistent stapedial artery 5 retinal
[radiopaedia.org]
Structural eye defects, including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical
[en.wikipedia.org]
dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness Retinitis pigmentosa-deafness
[mindmappedia.com]
[…] degeneration Retinal dysplasia X linked Retinal telangiectasia hypogammaglobulinemia Retinis pigmentosa deafness hypogenitalism Retinitis pigmentosa mental retardation deafness
[fact-index.com]
Retinal Dysplasia, X - Linked Retinal Dystrophy Retinal Edema Retinal Hemorrhage Retinal Migraine Retinal Neovascularization Retinal Scarring Retinal Tear Retinal Telangiectasia
[healthgrades.com]
X-linked primary retinal dysplasia (PRD) refers to an abnormal proliferation of retinal tissue causing either its neural elements or its glial tissue to form folds, giving
[ncbi.nlm.nih.gov]
Norrie disease (congenital retinal detachment), X-linked primary retinal dysplasia (congenital retinal fold), and X-linked exudative vitreoretinopathy (congenital macular
[ncbi.nlm.nih.gov]
Due to ophthalmological and audio-otological findings, including bilateral retinal dysplasia and detachment, progressive bilateral sensorineural hearing loss, and an X-linked
[ncbi.nlm.nih.gov]
PHPV rarely is bilateral in patients with Norrie's disease, Warburg syndrome, or patients with retinal dysplasia.
[ncbi.nlm.nih.gov]
Histological examination showed retrolental fibrovascular tissue and retinal dysplasia.
[ncbi.nlm.nih.gov]
Six eyes (17%) maintained Snellen visual acuity despite posterior PHPV with some degree of retinal dysplasia.
[ncbi.nlm.nih.gov]
Several conditions are associated with uncombable hair, such as ectodermal dysplasia, retinal dysplasia/ pigmentary dystrophy, juvenile cataract, digit abnormalities, tooth
[doi.org]
(p. 204) Roifman Syndrome: (Spondyloepiphyseal Dysplasia, Retinal Dystrophy and Antibody Deficiency) This chapter provides pictures and clinical details of ROIFMAN SYNDROME
[oxfordmedicine.com]
DISEASE: Roifman syndrome Entry H01575 Disease Name Roifman syndrome; Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency Description Roifman syndrome
[genome.jp]
retinal dystrophy and characteristic facial dysmorphism.
[ncbi.nlm.nih.gov]
Hereditary renal-retinal dysplasia. Ann. Intern. Med. 70: 735-744, 1969. PubMed ID: 5771531 Caridi, G., Murer, L., Bellaneuono, R., Sorino, p.
[wohproject.org]
[…] syndrome Senior-Loken Syndrome type 1 SENIOR-LOKEN SYNDROME 1 SLSN1 SENIOR-LOKEN SYNDROME 1; SLSN1 Renal Dysplasia and Retinal Aplasia Loken-Senior Syndrome Senior-Loken
[wikidata.org]
[…] pigmentosa and peripheral dysostosis]. 57 Diekmann L...Schulte-Kemna E 617982 1977 45 Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. 57 Hogewind
[malacards.org]
Aplasia Retinal Dysplasia Retinal Dystrophy, Early Onset Severe retinitis pigmentosa Retinohepatoendocrinologic Syndrome Rhegmatogenous Retinal Detachment, Autosomal Dominant
[rgd.mcw.edu]
Retinal detachment in spondyloepiphyseal dysplasia congenita. J Pediatr Orthop 1993;13:791–792.
[docksci.com]
[…] displacement, and retinal dysplasia.
[eyewiki.aao.org]
dysplasia within normally-formed globes.
[ncbi.nlm.nih.gov]
The median eye displayed severe retinal dysplasia with posterior retinal coloboma.
[jmg.bmj.com]
dysplasia); (3) mild midface malformations, such as pyriform sinus stenosis and choanal stenosis; (4) the mildest abnormalities, such as hypotelorism, solitary median maxillary
[hal.inserm.fr]
The ocular examination showed a microphthalmia with colobomata and retinal dysplasia.
[ijo.in]
CPA is thought to be inherited in an autosomal recessive fashion. 0000504 Retinal dysplasia 0007973 Sclerocornea Hardening of skin and connective tissue 0000647 Percent of
[rarediseases.info.nih.gov]
[…] the iris, retinal dysplasia, or sclerocornea).
[orpha.net]
Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
[ncbi.nlm.nih.gov]
Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram.
[ncbi.nlm.nih.gov]
Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia.
[ncbi.nlm.nih.gov]
Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.
[annals.org]
As renal dysplasia is no hereditary abnormality and the name retinal dysplasia refers to a totally different abnormality, the name hereditary renal-retinal dysplasia seems
[healio.com]
Hereditary renal-retinal dysplasia differs from medullary cystic disease and nephronophthisis in its pattern of uniformly recessive inheritance and its accompaniment by retinitis
[annals.org]
Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.
[annals.org]
dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y.
[onlinelibrary.wiley.com]
dysplasia,5 dysgenesis of the retinal neuroepithelium,6 retinal abiotrophy,' and hereditary retinal aplasia.7 Many other ocular and systemic problems have been reported in
[healio.com]
Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia.
[ncbi.nlm.nih.gov]
Orbital and cranial computerized tomographic scanning and magnetic resonance imaging demonstrated bilateral microphthalmos and presumed retinal dysplasia, hypoplasia of the
[ncbi.nlm.nih.gov]
Other congenital diseases such as microcornea, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis
[vetbook.org]
dysplasia, glaucoma, optic nerve abnormalities, and nystagmus.
[emedicine.medscape.com]
[…] virus infection can be associated with neurological abnormalities, positional abnormalities, hearing loss, and multiple ocular abnormalities, including, but not limited to, retinal
[emedicine.medscape.com]
Acta Ophthalmol. 51, 43-37, Warburg, M. (1976) Heterogeneity of congenital retinal non-attachment, falciform folds and retinal dysplasia: a guide to genetic counseling.
[myslide.es]
Tractional retinal folds and traction retinal detachment may be present. Retinal dysplasia and optic nerve hypoplasia have also been described.
[medtextfree.wordpress.com]
dysplasia Refsum disease Refsum disease, infantile form Renal coloboma syndrome Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Retinal
[familydiagnosis.com]
Last updated Aug. 28, 2017 The topic Renal Dysplasia-Retinal Pigmentary Dystrophy-Cerebellar Ataxia-Skeletal Dysplasia Syndrome you are seeking is a synonym, or alternative
[dovemed.com]
[…] dyskinesia and retinitis pigmentosa syndrome Renal dysplasia Retinal deposits Retinal pigment deposits Retinal pigment epithelial dystrophy Retinitis pigmentosa Retinitis
[icdlist.com]
[…] recessive Bardet-Biedl syndrome IFT81 ciliopathy IFT140 Short -rib thoracic dysplasia with or without polydactyly IFT172 Retinitis pigmentosa, Short -rib thoracic dysplasia
[molecularvisionlab.com]
Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.
[annals.org]
Rokkones TD, Loken AC: Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-OH-prolinuria.
[link.springer.com]
dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y.
[onlinelibrary.wiley.com]
Three had anterior segment dysgenesis; 4, congenital lens abnormalities; 14, chorioretinal colobomas; 12, persistent hyperplastic primary vitreous; 4, retinal dysplasia; and
[jamanetwork.com]
Ocular abnormalities are microcornea, corneal opacification, corectopia, ectopia lentis, aniridia, cataract, persistent fetal vasculature and/or retinal dysplasia.
[eyewiki.aao.org]
Further screening in a cohort of 10 retinal dysplasia/severe FEVR patients identified an additional three cases with recessive TSPAN12 mutations.
[ncbi.nlm.nih.gov]
Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).
[acronyms.thefreedictionary.com]
Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.
[annals.org]
dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y.
[onlinelibrary.wiley.com]
dysplasia,5 dysgenesis of the retinal neuroepithelium,6 retinal abiotrophy,' and hereditary retinal aplasia.7 Many other ocular and systemic problems have been reported in
[healio.com]
[…] malformation (retinal dysplasia) increase risk for retinal detachment Nearsightedness (myopia) or farsightedness (hyperopia) Poor vision or Visual Field defect Involuntary
[eyewiki.aao.org]
dysplasia May also be part of systemic anomalies, including: CHARGE association (coloboma, congenital heart disease, and choanal atresia, growth or development retardation
[dro.hs.columbia.edu]
[…] eye abnormalities or features: Difference in eye color between the two eyes (heterochromia) Small eye (microphthalmia) Increased thickness of the cornea Cataract Glaucoma Retinal
[eyewiki.aao.org]
Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome. Clin Genet. 1999 Feb. 55(2):103-9. [Medline].
[emedicine.medscape.com]
[…] and retinal dystrophy have also been described. [10] The syndrome of X-linked hypogammaglobulinemia with growth hormone deficiency has also been reported. [11] This has been
[emedicine.medscape.com]
[8] Patients with B-cell deficiency associated with intrauterine growth retardation have been described, [9] and patients with agammaglobulinemia with spondyloepiphyseal dysplasia
[emedicine.medscape.com]
Vitrectomy and silicon oil injection were effective in reattaching the retinal detachment in a Kniest dysplasia patient.
[ncbi.nlm.nih.gov]
A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8.
[ghr.nlm.nih.gov]
Yokoyama T, Nakatani S, Murakami A: A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol 136:1186–1188, 2003.
[link.springer.com]
Dysplasia Retinal Dystrophy, Early Onset Severe retinitis pigmentosa Retinohepatoendocrinologic syndrome Rhegmatogenous Retinal Detachment, Autosomal Dominant Spondyloocular
[familydiagnosis.com]
[…] maculopathy Usher syndrome X-linked retinal dysplasia X-linked retinoschisis Åland Islands eye disease
[se-atlas.de]
type 2, Nephronophthisis, Retinitis pigmentosa, Senior-Loken syndrome, Short -rib thoracic dysplasia with or without polydactyly ZNF513 Retinitis pigmentosa ALMS1 AlstrÃ
[genda.com.ar]
dysplasia May also be part of systemic anomalies, including: CHARGE association (coloboma, congenital heart disease, and choanal atresia, growth or development retardation
[columbiaeye.org]
dysplasia: an abnormality of the retina Nearsightedness or farsightedness Nystagmus: involuntary eye movements Posterior staphyloma: a protrusion at the back of the eyeball
[lighthouseguild.org]
dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia.
[en.wikipedia.org]
Often part of microphthalmos ; may be other concurrent defects, eg cataract Cataract, persistent pupillary membrane Persistent pupillary membrane, retinal dysplasia Retinal
[vetstream.com]
Other congenital diseases such as microphthalmos, microcoria, heterochromia iridis, microlentia, cataracts, retinal dysplasia, retinal detachment, anterior segment dysgenesis
[vetbook.org]
[…] hemorrhagic retinopathy, circumscribed chorioretinal atrophy, abnormal vascular development (tortuosity, early termination, absence), coloboma, lens subluxation, cataracts, and retinal
[medical-dictionary.thefreedictionary.com]
Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
[ncbi.nlm.nih.gov]
Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on funduscopic examination and as cone-rod dystrophy on electroretinogram.
[ncbi.nlm.nih.gov]
Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia.
[ncbi.nlm.nih.gov]
Aplasia retinal arterial tortuosity retinal artery occlusion retinal degeneration retinal detachment Retinal Dysplasia retinal edema Retinal Hemorrhage Retinal Neoplasms
[rgd.mcw.edu]
dysplasia (HP:0007973) ..Retinal dystrophy (HP:0000556) ..Retinal fold (HP:0008052) ..Retinal hamartoma (HP:0009594) ..Retinal hemorrhage (HP:0000573) ..Retinal infarction
[mseqdr.org]
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
[rgd.mcw.edu]
retinal dysplasia, etc.), oculomotor, musculoskeletal and renal (e.g., cystic dysplasia, nephronophthisis), with renal failure.
[ncbi.nlm.nih.gov]
Three patients in one family had renal-retinal dysplasia with probable recessive inheritance.
[annals.org]
dysplasia, Documenta Ophthalmologica, 1980, 49, 2, 347 CrossRef 5 Y.
[onlinelibrary.wiley.com]
