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Knobloch Syndrome Type 1

KNO1


Presentation

  • 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]
  • Retinal detachment and/or phthisis was only present in the child with the ADAMTS18 mutation.[cags.org.ae]
  • Nystagmus (dancing of the eyes), and strabismus (crossing of the eyes) are often present. Genetics: This is an autosomal recessive condition that requires the presence of changes (mutations) in both copies of a specific gene.[disorders.eyes.arizona.edu]
Developmental Disabilities
  • Survival and developmental disability in infants with birth weights of 501 to 800 grams, born between 1979 and 1994 Pediatrics 1997; 100 :982–6. 2 La Pine TP , Jackson JC, Bennet FC.[jurnalpediatri.com]
  • Mental retardation and developmental disabilities research reviews. 2007;13(3):221-7. 7. Badan Penelitian dan Perkembangan Kementerian Kesehatan Indonesia. Penyajian Pokok-Pokok Hasil riset Kesehatan Dasar. 2013 p. 19–39 8. Riquelme A, Manzanal G.[text-id.123dok.com]
  • DISABILITY, AND SEIZURES Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION Short Stature-Obesity Syndrome shoulder impingement syndrome[rgd.mcw.edu]
Cognitive Deficit
  • Brain imaging has revealed a variety of defects and some patients have cognitive deficits and personality changes. Cerebellar atrophy with ataxia is found in some patients.[disorders.eyes.arizona.edu]
Personality Change
  • Brain imaging has revealed a variety of defects and some patients have cognitive deficits and personality changes. Cerebellar atrophy with ataxia is found in some patients.[disorders.eyes.arizona.edu]
Involuntary Movements
  • Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 1 Neuroferritinopathy 1 Neurofibromatosis, Familial Spinal 2 Neurofibromatosis, Type 1 8 Neurofibromatosis, Type 2 1 Neurofibromatosis-Noonan Syndrome 2 Neuromyotonia[preventiongenetics.com]

Workup

Hypertriglyceridemia
  • Schmidt, Deletion of the Basement Membrane Heparan Sulfate Proteoglycan Type XVIII Collagen Causes Hypertriglyceridemia in Mice and Humans, PLoS ONE, 5, 11, (e13919), (2010). Vinit B.[dx.doi.org]
Occipital Encephalocele
  • 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]
  • Abstract 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).[dx.doi.org]
  • encephalocele to occult cutis aplasia (summary by {1:Aldahmesh et al., 2011}).[diseaseinfosearch.org]
  • Clinical Correlations: The brain may not be properly formed and in many patients the rear of the skull is not fully closed with a sac-like protrusion of brain tissue (occipital encephalocele).[disorders.eyes.arizona.edu]

Treatment

  • 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]
  • The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.[books.google.com]
  • Treatment modalities include retinal reattachment surgery, prophylactic treatment of the vitreoretinal pathology and photodynamic therapy.[orpha.net]

Prognosis

  • 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 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]
  • 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

  • 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]
  • To find an additional way to detect type XVIII collagen disruption in KS patients and gain a deeper understanding of the KS etiology, we performed protein measurements in situ and characterization of a mutation with an unknown effect in vitro.[molvis.org]
  • PurposeTo facilitate future diagnosis of Knobloch syndrome (KS) and better understand its etiology, we sought to identify not yet described COL18A1 mutations in KS patients.[scienceopen.com]
  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • In Puerto Rico, both type 1 (HPS type 1) and type 3 (HPS type 3) have been described. [2, 3, 4, 5, 6] Pathophysiology Patients with the syndrome have Ty-pos OCA. As the name implies, both the visual and skin systems are affected.[emedicine.medscape.com]

Prevention

  • 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]
  • YAG laser peripheral iridotomy for the prevention of pigment dispersion glaucoma a prospective, randomized, controlled trial. Ophthalmology. 2011;118(3):468-473. PubMed Google Scholar Crossref 35. Chang L, Pan CW, Ohno-Matsui K, et al.[doi.org]

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