Venkateshappa reported a patient that also had seizures, which is a sporadic presentation of this syndrome. [neurosurgery.directory]

We present a case of a 2 years and 4 months old boy with speech delay, ataxia, large amplitude horizontal nystagmus and occipital dermal sinus. [nevrologiabg.com]

Bullough, MB, ChB, presents a unique, lavishly illustrated account of the pathology of arthritic disorders, metabolic disturbances, and soft tissue and bone tumors. [books.google.com]

Due to the overlapping clinical presentation of this family with Knobloch syndrome we propose this phenotype as a type III variant of KS (KNO3). [ncbi.nlm.nih.gov]

In the present study, all patients presented with early-onset high myopia, with refractive diopters higher than −8 D. All patients showed retina changes, including tessellated fundus and macular abnormalities. [mdpi.com]

• Developmental Disorder

  Knobloch syndrome (KS) is a developmental disorder characterised by occipital skull defect, high myopia, and vitreo-retinal degeneration. Although genetic heterogeneity has been suspected, COL18A1 is the only known KS disease gene to date. [ncbi.nlm.nih.gov]

  Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03 PO Box 3354, Riyadh 11211, Saudi Arabia; falkuraya{at}kfshrc.edu.sa Abstract Background Knobloch syndrome (KS) is a developmental disorder characterised [doi.org]

  Get Update Overview Knobloch syndrome is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital [diseaseinfosearch.org]

  DISORDER WITH CARDIAC ARRHYTHMIA INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL [rgd.mcw.edu]

• Lymphedema

  Deletion of part of Xp21 4039107 Lymphedema-Distichiasis syndrome #153400 Lymphedema, hereditary II #153200 TP: “Allelic disorders with overlapping phenotypes include Lymphedema type II” 10086462 Celiac disease susceptibility to 1 #212750 Celiac disease [cbs.dtu.dk]

  Hereditary Optic Neuropathy (LHON) Legal and Ethical Issues: A Special Topic Legius Syndrome Leigh Syndrome Lenz Microphthalmia Syndrome LEOPARD Syndrome Lesch-Nyhan Syndrome (LNS) Li-Fraumeni Syndrome (LFS) Lissencephaly Lowe Syndrome Lujan-Fryns Syndrome Lymphedema-Distichiasis [corp.credoreference.com]

  ANOMALIES 2 Lissencephaly 6, with Microcephaly Loose Anagen Hair Syndrome + LOPES-MACIEL-RODAN SYNDROME Lown-Ganong-Levine syndrome Lubani Al Saleh Teebi Syndrome LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME Lutz Richner Landolt Syndrome Lymphedema [rgd.mcw.edu]

  Keratoderma, palmoplantar, with deafness, Vohwinkel syndrome GJB6 Deafness IFT122 Cranioectodermal dysplasia (Levin-Sensenbrenner) type 1, Cranioectodermal dysplasia (Levin-Sensenbrenner) type 2, Sensenbrenner syndrome IKBKG Ectodermal, dysplasia, anhidrotic, lymphedema [genda.com.ar]

  In the absence of obvious neurologic symptoms, the differential diagnosis of KS includes but is not limited to cone-rod dystrophy, Leber congenital amaurosis, retinitis pigmentosa, microcephaly lymphedema chorioretinal dysplasia syndrome, and Stickler [go.gale.com]

• Anemia

  1 2 Diamond-Blackfan Anemia 10 2 Diamond-Blackfan Anemia 11 2 Diamond-Blackfan Anemia 12 2 Diamond-Blackfan Anemia 3 2 Diamond-Blackfan Anemia 4 2 Diamond-Blackfan Anemia 5 2 Diamond-Blackfan Anemia 6 2 Diamond-Blackfan Anemia 7 2 Diamond-Blackfan Anemia [preventiongenetics.com]

  Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related TERT Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related TINF2 Dyskeratosis congenita, Revesz syndrome USB1 [genda.com.ar]

  X-Linked Sideroblastic Anemia and Ataxia Y Y Chromosome: A Special Topic Y Chromosome Infertility Z ZAP70-Related Severe Combined Immunodeficiency (ZAP70-Related SCID) Zellweger Syndrome Helpful Resources about Genetic Disorders About the Author [corp.credoreference.com]

  #227650 TP: “White forelock and patches leukoderma occur also in Fanconi anemia” OMIM Glaucoma 1, open angle, A #137750 Glaucoma 1, open angle, J %608695 TP: Two different loci of Glaucoma 1, open angle 15108121 Oral-facial-digital syndrome IX %258865 [cbs.dtu.dk]

  Penoscrotal Web, and Mental Retardation CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation Congenital Hypoplastic Anemia [rgd.mcw.edu]

• Hypertension

  However, both conditions are caused by changed renal tubular Na+ absorption (hypertension: increased. [cbs.dtu.dk]

  He had chronic cardiac hypertension, dyslipidemia and sleep apnoea. He had accessory spleen. The patient had venous insufficiency of the lower limbs. [tandfonline.com]

  Interestingly, treating the mutants with the angiotensin II type 1 receptor antagonist losartan, a conventional hypertensive medication, has been shown to attenuate mitochondrial ROS production, improve mitochondrial morphology and restore function, suggesting [go.gale.com]

  About ten per cent of the population experience impairment during their waking hours as a result of chronic insomnia, a condition that has been linked to low quality of life, depression, increases in cardiovascular disease and hypertension, cognitive [blog.goo.ne.jp]

• Joint Dislocation

  Contractures, and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation, X-Linked + Mental Retardation, X-Linked, Syndromic, Zdhhc9 [rgd.mcw.edu]

  Dislocations 2 Spondyloepiphyseal Sysplasia, Stanescu Type 1 Spondylometaepiphyseal Dysplasia Short Limb-Hand Type 2 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 2 Spondylometaphyseal Dysplasia, Kozlowski Type 1 Spondyloperipheral Dysplasia [preventiongenetics.com]

• Akinesia

  Two different loci of Glaucoma 1, open angle 15108121 Oral-facial-digital syndrome IX %258865 Oral-facial-digital syndrome II %252100 TP: Two different forms and loci of Oral-facial-digital syndrome 8074150 Hydranencephaly, fowler type %225790 Fetal akinesia [cbs.dtu.dk]

  Mitochondriopathies Whole DNA sequencing - - 16.6 MTM1 X-Linked Centronuclear Myopathy Sequencing of all coding exons of the gene Deletion and duplication analysis - 1.8 MTTP Abetalipoproteinemia Sequencing of all coding exons of the gene - - 2.8 MUSK FETAL AKINESIA [cegat.de]

  Complementation Group U 1 Fanconi Anemia, Complementation Group V 1 Fanconi-Bickel Syndrome 3 Farber's Lipogranulomatosis 1 Fasting Plasma Glucose Level Quantitative Trait Locus 5 1 Fazio-Londe Disease 1 Fechtner Syndrome 3 Feingold Syndrome 1 2 Fetal Akinesia [preventiongenetics.com]

Finally, this syndrome should be considered in the diagnostic workup of patients with pathological myopia. [tandfonline.com]

• Occipital Encephalocele

  Synonyms Vitreoretinal Degeneration with Retinal Detachment, Occipital Encephalocele Syndrome; Knobloch-Layer Syndrome; Retinal Detachment and Occipital Encephalocele Syndrome. History It is named after D. O. [accessanesthesiology.mhmedical.com]

  Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by ocular abnormalities (myopia and retinal detachment) and occipital encephalocele. The syndrome is clinically and genetically heterogeneous (KNO1, KNO2). [ncbi.nlm.nih.gov]

  About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Knobloch-Layer syndrome, Myopia retinal detachment encephalocele, Retinal detachment-occipital encephalocele syndrome See more Don’t fight Knobloch syndrome [rareguru.com]

  Encephaloceles may be associated with intellectual disability; however, most patients have normal intelligence. Diagnosis of KNO is based on ocular abnormalities and occipital encephalocele. [cags.org.ae]

Treatment modalities include retinal reattachment surgery, prophylactic treatment of the vitreoretinal pathology and photodynamic therapy. [orpha.net]

Treatment Treatment Options: Treatment is largely supportive. Attempts at repair of retinal detachments often fail and phthisis bulbi is not uncommon. References References White RJ, Wang Y, Tang P, Montezuma SR. [disorders.eyes.arizona.edu]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis The eye findings in KS are severe and progressive, and regularly lead to bilateral blindness at a young age. The documents contained in this web site are presented for information purposes only. [orpha.net]

Diagnosis and Prognosis: The skull defect is usually visible at birth but sometimes can be subtle if only the overlying skin is involved. An ophthalmologist is needed to diagnose the ocular changes in this syndrome. [disorders.eyes.arizona.edu]

Prognosis There is currently no available data on long-term visual prognosis of Stickler syndrome; however, prophylactic treatment to prevent retinal detachment is expected to improve long term visual prognosis. [eyewiki.aao.org]

Etiology The syndrome is clinically and genetically heterogeneous with three forms, KNO1, KNO2 and KNO3, being defined. KNO1 is caused by inactivating mutations in the collagen XVIII/endostatin gene ( COL18A1 ) mapped to 21q22.3. [orpha.net]

However, there are patients clinically diagnosed as Knobloch syndrome with unknown molecular etiology not linked to COL18A1. [serval.unil.ch]

[from MedlinePlus Genetics] Etiology Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuželová K, Santoni FA Hum Mol Genet 2021 Dec 17;31(1):1-9. doi: 10.1093/hmg/ddab026 [ncbi.nlm.nih.gov]

Down Syndrome in Oman: Etiology, Prevalence and Potential Risk Factors. A Cytogenetic, Molecular Genetic and Epidemiological Study. Berlin; 2010 p. 1–13 39. Stagni F. [text-id.123dok.com]

Summary Epidemiology The exact prevalence is unknown but less than 30 cases have been reported in the literature so far. [orpha.net]

Relevant External Links for COL18A1 Genetic Association Database (GAD) COL18A1 Human Genome Epidemiology (HuGE) Navigator COL18A1 Tumor Gene Database (TGDB): COL18A1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: COL18A1 No data available [genecards.org]

Jarvelin Epidemiology of prostatitis in Finnish men: a population based cross-sectional study BJU Int, 86 (2000), pp. 443-448 [9.] G.W. Drach, E.M. Meares, W.R. Fair, T.A. [elsevier.es]

This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology-allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. [neurosurgery.directory]

Pathophysiology Condition controlled by a mutation in the COL18A1 collagen gene that is of variable expressivity. [accessanesthesiology.mhmedical.com]

While treatment for KS is often supportive, recent advancements in our understanding of the pathophysiology of the disease come from studies in Drosophila [12]. [go.gale.com]

Pathophysiology Stickler syndrome is believed to be a direct result of abnormalities in the production of collagen types II, IX and XI, all of which are recognized as components of the human vitreous. [2] Normal collagen fibrils are composed of three [eyewiki.aao.org]

Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention 2). [neurosurgery.directory]

As Stickler syndrome is related to a genetic abnormality, there is no known primary prevention. [eyewiki.aao.org]

Cancer Prevention in Populations High At-Risk for the Development of Oral Cancer: Clinical Trials with Black Raspberries; Editors Stoner GD and Seeram NP. Berries and Cancer Prevention. New York, NY: Springer New York; 2010. p. 259–280. [cph.osu.edu]

As symptomatic flap tears are at high risk, they should be properly treated to prevent an RD (Fig. 3-4). [institut-vision.org]