DOCSLIB.ORG

Prevalence of Rare Diseases: Bibliographic Data

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text

Load more

Prevalence distribution of rare diseases 200 180 160 140 120 100 80 Number of diseases 60 November 2009 40 May 2014 Number 1 20 0 0 5 10 15 20 25 30 35 40 45 50 Estimated prevalence (/100000) Prevalence of rare diseases: Bibliographic data Listed in alphabetical order of disease or group of diseases www.orpha.net Methodology A systematic survey of the literature is being Updated Data performed in order to provide an estimate of the New information from available data sources: EMA, prevalence of rare diseases in Europe. An updated new scientific publications, grey literature, expert report will be published regularly and will replace opinion. the previous version. This update contains new epidemiological data and modifications to existing data for which new information has been made Limitation of the study available. The exact prevalence rate of each rare disease is difficult to assess from the available data sources. Search strategy There is a low level of consistency between studies, a poor documentation of methods used, confusion The search strategy is carried out using several data between incidence and prevalence, and/or confusion sources: between incidence at birth and life-long incidence. - Websites: Orphanet, e-medicine, GeneClinics, EMA The validity of the published studies is taken for and OMIM ; granted and not assessed. It is likely that there - Registries, RARECARE is an overestimation for most diseases as the few - Medline is consulted using the search algorithm: published prevalence surveys are usually done in «Disease names» AND Epidemiology[MeSH:NoExp] regions of higher prevalence and are usually based OR Incidence[Title/abstract] OR Prevalence[Title/ on hospital data. Therefore, these estimates are an abstract] OR Epidemiology[Title/abstract] ; indication of the assumed prevalence but may not be accurate. - Medical books, grey literature and reports from experts are also important sources of data. Collected data Prevalence values provided are the mean of the highest and lowest values collected. When prevalence is not documented we calculate it using incidence: - For congenital diseases with birth-onset, prevalence = incidence at birth x (patient life expectancy/ general population life expectancy) ; - For the other rare diseases, prevalence = incidence x rare disease mean duration ; When no prevalence or incidence data are available, the number of cases or families reported in the literature is provided. The * sign indicates a life time prevalence. The ** sign indicates a birth prevalence. It was used when the birth prevalence was the only data available and a prevalence estimate was not possible because of a large variability in the duration of the disease. NB: Life expectancy of the French population (81 years) is used as the general population life expectancy. For any questions or comments, please contact us: [email protected] Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf Prevalence or reported number of published cases listed in alphabetical order of disease or group of diseases Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 94063 12q14 microdeletion syndrome 4 cases 926 Acatalasemia 3.2 199318 15q13.3 microdeletion syndrome 150 cases 48818 Aceruloplasminemia 0.1 94065 15q24 microdeletion syndrome 4 cases 929 Achalasia - microcephaly 5 cases 1606 1p36 deletion syndrome 15** 931 Acheiropodia < 10 families 268261 21q22.13q22.2 microdeletion syndrome 12 cases 932 Achondrogenesis 2.8** 567 22q11.2 deletion syndrome 5.6** 15 Achondroplasia 2.6** 79157 2-methylbutyryl-CoA dehydrogenase deficiency < 30 cases 49382 Achromatopsia 2.7 163693 2p21 microdeletion syndrome 7 cases 2561 Ackerman syndrome 8 cases 1617 2q24 microdeletion syndrome 23 cases 79086 Acquired generalized lipodystrophy > 100 251019 2q32q33 microdeletion syndrome < 25 cases cases 1001 2q37 microdeletion syndrome 10 cases 73274 Acquired hemophilia 0.1 7 3C syndrome 25 cases 2221 Acquired hypertrichosis lanuginosa 60 cases 35701 3-hydroxy-3-methylglutaryl-CoA synthase 9 cases 99147 Acquired Von Willebrand syndrome 300 cases deficiency 36 Acrocallosal syndrome 34 cases 2616 3M syndrome 40 cases 2008 Acro-cardio-facial syndrome 9 cases 67046 3-methylglutaconic aciduria type 1 20 cases 949 Acrocraniofacial dysostosis 2 cases 2975 46,XX disorder of sex development - skeletal 2 cases anomalies 37 Acrodermatitis enteropathica 0.2 2138 46,XX ovotesticular disorder of sex > 500 1786 Acrofacial dysostosis, Catania type 6 cases development cases 64542 Acrofacial dysostosis, Kennedy-Teebi type 2 cases 168558 46,XY disorder of sex development - adrenal 9 cases 1787 Acrofacial dysostosis, Palagonia type 4 cases insufficiency due to CYP11A1 deficiency 1788 Acrofacial dysostosis, Rodríguez type < 10 752 46,XY disorder of sex development due to 0.68 cases 17-beta-hydroxysteroid dehydrogenase 3 deficiency 1784 Acro-fronto-facio-nasal dysostosis 5 cases 168563 46,XY gonadal dysgenesis - motor and sensory 6 cases 965 Acromegaloid facial appearance syndrome < 20 cases neuropathy 963 Acromegaly 6 10 48,XXYY syndrome 1.9** 964 Acromegaly - cutis verticis gyrata - corneal 16 cases 22 4-hydroxybutyric aciduria 450 cases leukoma 33572 5-oxoprolinase deficiency 8 cases 39 Acromelanosis < 10 cases 75857 6q terminal deletion syndrome 19 cases 953 Acromesomelic dysplasia, Brahimi-Bacha type 3 cases 171829 6q16 deletion syndrome 7 cases 968 Acromesomelic dysplasia, Hunter-Thomson 10 cases type 178303 8q22.1 microdeletion syndrome 4 cases 40 Acromesomelic dysplasia, Maroteaux type 50 cases 915 Aarskog-Scott syndrome 0.4** 969 Acromicric dysplasia < 40 cases 916 Aase-Smith syndrome < 10 cases 955 Acroosteolysis dominant type 50 cases 920 Ablepharon macrostomia syndrome 15 cases 85203 Acro-pectoral syndrome 22 cases 921 Abruzzo-Erickson syndrome 4 cases 956 Acro-pectoro-renal dysplasia 12 cases 1658 Absence of fingerprints - congenital milia 14 cases 957 Acropectorovertebral dysplasia < 30 cases 2951 Absent thumb - short stature - 3 cases immunodeficiency 971 Acrorenal syndrome 20 cases 67043 Acanthamoeba keratitis 1 958 Acro-renal-mandibular syndrome 7 cases 90301 Acanthosis nigricans - Insulin resistance - 5 cases 959 Acro-renal-ocular syndrome < 20 muscle cramps - acral enlargement families * Lifetime prevalence ** Prevalence at birth Orphanet Report Series - Prevalence of rare diseases: Bibliographic data - May 2014 - Number 1 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf 3 Prevalence of rare diseases: Bibliographic data - Listed in alphabetical order of disease or group of diseases Number of Number of Estimated Estimated ORPHA published ORPHA published Disease or group of diseases prevalence Disease or group of diseases prevalence Number cases or Number cases or (/100,000) (/100,000) families families 163696 Action myoclonus - renal failure syndrome 17 cases 56 Alkaptonuria 0.5 69736 Acute bilateral depigmentation of the iris 5 cases 59 Allan-Herndon-Dudley syndrome 89 cases 98916 Acute inflammatory demyelinating 3.1 1005 Alopecia - contractures - dwarfism - 5 cases polyradiculoneuropathy intellectual disability 79276 Acute intermittent porphyria 0.54 1008 Alopecia - epilepsy - pyorrhea - intellectual 12 cases disability 79126 Acute interstitial pneumonia 3.8 700 Alopecia totalis 10.5 90062 Acute liver failure 23 701 Alopecia universalis 25 98918 Acute motor axonal neuropathy 0.1 726 Alpers syndrome 0.7** 98917 Acute motor-sensory axonal neuropathy 0.1 60 Alpha-1-antitrypsin deficiency 25 519 Acute myeloid leukemia 11* 61 Alpha-mannosidosis 0.2** 55881 Adamantinoma 0.11* 3137 Alpha-N-acetylgalactosaminidase deficiency < 20 2952 Adducted thumbs - arthrogryposis, Christian 3 families cases type 847 Alpha-thalassemia - X-linked intellectual > 200 45 Adenosine monophosphate deaminase > 100 disability syndrome cases deficiency cases 63 Alport syndrome 2 46 Adenylosuccinate lyase deficiency 50 cases 2131 Alternating hemiplegia of childhood 0.9** 1501 Adrenocortical carcinoma 1 284 Alveolar echinococcosis < 1000 2666 Adult familial nephronophthisis - spastic 2 cases cases quadriparesia 1021 Amaurosis - hypertrichosis 2 cases 178487 Adult intestinal botulism 19 cases 1946 Amelo-cerebro-hypohidrotic syndrome 39 cases 829 Adult Still's disease 1.25 171836 Amelogenesis imperfecta and gingival 4 cases 978 ADULT syndrome 14 cases hyperplasia syndrome 209335 Adult-onset proximal spinal muscular atrophy, 0.1 1908 Aminopterin/methotrexate embryofetopathy 17 cases autosomal dominant 1034 Amniotic bands 4** 83617 Agammaglobulinemia - microcephaly - 3 cases craniosynostosis - severe dermatitis 69 Amyloidosis 30 52055 Agenesis of the corpus callosum - intellectual 2 cases 803 Amyotrophic lateral sclerosis 5.2 disability - coloboma - micrognathia 228113 Anal fistula 23 98850 Aggressive systemic mastocytosis 0.2 98841 Anaplastic large cell lymphoma 2 990 Agnathia - holoprosencephaly - situs inversus 30 cases 142 Anaplastic thyroid carcinoma 0.1 50 Aicardi syndrome 1** 157954 ANE syndrome 5 cases 51 Aicardi-Goutières syndrome 120 cases 72 Angelman syndrome 1.1 52 Alagille syndrome 0.4** 63442 Angel-shaped phalango-epiphyseal dysplasia 15 cases 178333 Åland Islands eye disease > 5 2346 Angio-osteohypertrophic
Recommended publications
  • CADASIL Testing

    CADASIL Testing

    Lab Management Guidelines V1.0.2020 CADASIL Testing MOL.TS.144.A v1.0.2020 Introduction CADASIL testing is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline NOTCH3 Known Familial Mutation 81403 Analysis NOTCH3 Targeted Sequencing 81406 NOTCH3 Deletion/Duplication Analysis 81479 What is CADASIL Definition CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is an adult-onset form of cerebrovascular disease. There are no generally accepted clinical diagnostic criteria for CADASIL and symptoms vary among affected individuals. Signs and symptoms Typical signs and symptoms include1,2,3 Transient ischemic attacks and ischemic stroke, occurs at a mean age of 47 years (age range 20-70 years), in most cases without conventional vascular risk factors cognitive disturbance, primarily affecting executive function, may start as early as age 35 years psychiatric or behavioral abnormalities migraine with aura, occurs with a mean age of onset of 30 years (age range 6-48 years), and Less common symptoms include: © 2020 eviCore healthcare. All Rights Reserved. 1 of 7 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V1.0.2020 recurrent seizures with onset in middle age, usually secondary to stroke acute encephalopathy, with a mean age of onset of 42 years Life expectancy for men with CADASIL is reduced by approximately five years and for women by 1 to 2 years.4 Diagnosis Brain Magnetic Resonance Imaging (MRI) findings include T2-signal-abnormalities in the white matter of the temporal pole and T2-signal-abnormalities in the external capsule and corpus callosum.1,2 CADASIL is suspected in an individual with the clinical signs and MRI findings.
  • Glossary for Narrative Writing

    Glossary for Narrative Writing

    Periodontal Assessment and Treatment Planning Gingival description Color: o pink o erythematous o cyanotic o racial pigmentation o metallic pigmentation o uniformity Contour: o recession o clefts o enlarged papillae o cratered papillae o blunted papillae o highly rolled o bulbous o knife-edged o scalloped o stippled Consistency: o firm o edematous o hyperplastic o fibrotic Band of gingiva: o amount o quality o location o treatability Bleeding tendency: o sulcus base, lining o gingival margins Suppuration Sinus tract formation Pocket depths Pseudopockets Frena Pain Other pathology Dental Description Defective restorations: o overhangs o open contacts o poor contours Fractured cusps 1 ww.links2success.biz [email protected] 914-303-6464 Caries Deposits: o Type . plaque . calculus . stain . matera alba o Location . supragingival . subgingival o Severity . mild . moderate . severe Wear facets Percussion sensitivity Tooth vitality Attrition, erosion, abrasion Occlusal plane level Occlusion findings Furcations Mobility Fremitus Radiographic findings Film dates Crown:root ratio Amount of bone loss o horizontal; vertical o localized; generalized Root length and shape Overhangs Bulbous crowns Fenestrations Dehiscences Tooth resorption Retained root tips Impacted teeth Root proximities Tilted teeth Radiolucencies/opacities Etiologic factors Local: o plaque o calculus o overhangs 2 ww.links2success.biz [email protected] 914-303-6464 o orthodontic apparatus o open margins o open contacts o improper
  • Clinical Classification of Caroli's Disease: an Analysis of 30 Patients

    Clinical Classification of Caroli's Disease: an Analysis of 30 Patients

    View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector DOI:10.1111/hpb.12330 HPB ORIGINAL ARTICLE Clinical classification of Caroli's disease: an analysis of 30 patients Zhong-Xia Wang1,2*, Yong-Gang Li2*, Rui-Lin Wang2, Yong-Wu Li3, Zhi-Yan Li3, Li-Fu Wang2, Hui-Ying Yang2, Yun Zhu2, Yao Wang2, Yun-Feng Bai2, Ting-Ting He2, Xiao-Feng Zhang2 & Xiao-He Xiao1,2 1Department of Graduate School, 301 Hospital, 2Integrative Medical Centre, and 3Imaging Centre, 302 Hospital, Beijing, China Abstract Background: Caroli's disease (CD) is a rare congenital disorder. The early diagnosis of the disease and differentiation of types I and II are of extreme importance to patient survival. This study was designed to review and discuss observations in 30 patients with CD and to clarify the clinical characteristics of the disease. Methods: The demographic and clinical features, laboratory indicators, imaging findings and pathology results for 30 patients with CD were reviewed retrospectively. Results: Caroli's disease can occur at any age. The average age of onset in the study cohort was 24 years. Patients who presented with symptoms before the age of 40 years were more likely to develop type II CD. Approximately one-third of patients presented without positive signs at original diagnosis and most of these patients were found to have type I CD on pathology. Anaemia, leucopoenia and thrombocytopoenia were more frequent in patients with type II than type I CD. Magnetic resonance cholangiopancreatography (MRCP) and computed tomography (CT) examinations were most useful in diagnosing CD.
  • Biliary Tract

    Biliary Tract

    2016-06-16 The role of cytology in management of diseases of hepatobiliary ducts • Diagnosis in patients with radiologically/clinically detected lesions • Screening of dysplasia/CIS/cancer in risk groups biliary tract cytology • Preoperative evaluation of the candidates for liver transplantation (Patients with cytological low-grade and high-grade Mehmet Akif Demir, MD dysplasia/adenocarcinoma are currently referred for liver transplantation Sahlgrenska University Hospital in some institutions). Gothenburg Sweden Sarajevo 18th June 2016 • Diagnosis of the benign lesions and infestations False positive findings • majority of false positive cases have a Low sensitivity but high specificity! background of primary sclerosing cholangitis. – lymphoplasmacytic sclerosing pancreatitis and cholangitis, – primary sclerosing cholangitis, – granulomatous disease, – non-specific fibrosis/inflammation – stone disease. False negative findings • Repeat brushing increases the diagnostic yield and should be performed when sampling • Poor sampling biliary strictures with a cytology brush at ERCP. • Lack of diagnostic criteria for dysplasia-carcinoma in situ • Difficulties in recognition of special tumour types – well-differentiated cholangiocarcinoma with tubular architecture • Predictors of positive yield include – gastric foveolar type cholangiocarcinoma with mucin-producing – tumour cells. older age, •Underestimating the significance of the smear background – mass size >1 cm, and – stricture length of >1 cm. •The causes of false negative cytology –sampling
  • The National Economic Burden of Rare Disease Study February 2021

    The National Economic Burden of Rare Disease Study February 2021

    Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc.
  • Non-Syndromic Occurrence of True Generalized Microdontia with Mandibular Mesiodens - a Rare Case Seema D Bargale* and Shital DP Kiran

    Non-Syndromic Occurrence of True Generalized Microdontia with Mandibular Mesiodens - a Rare Case Seema D Bargale* and Shital DP Kiran

    Bargale and Kiran Head & Face Medicine 2011, 7:19 http://www.head-face-med.com/content/7/1/19 HEAD & FACE MEDICINE CASEREPORT Open Access Non-syndromic occurrence of true generalized microdontia with mandibular mesiodens - a rare case Seema D Bargale* and Shital DP Kiran Abstract Abnormalities in size of teeth and number of teeth are occasionally recorded in clinical cases. True generalized microdontia is rare case in which all the teeth are smaller than normal. Mesiodens is commonly located in maxilary central incisor region and uncommon in the mandible. In the present case a 12 year-old boy was healthy; normal in appearance and the medical history was noncontributory. The patient was examined and found to have permanent teeth that were smaller than those of the average adult teeth. The true generalized microdontia was accompanied by mandibular mesiodens. This is a unique case report of non-syndromic association of mandibular hyperdontia with true generalized microdontia. Keywords: Generalised microdontia, Hyperdontia, Permanent dentition, Mandibular supernumerary tooth Introduction [Ullrich-Turner syndrome], Chromosome 13[trisomy 13], Microdontia is a rare phenomenon. The term microdontia Rothmund-Thomson syndrome, Hallermann-Streiff, Oro- (microdentism, microdontism) is defined as the condition faciodigital syndrome (type 3), Oculo-mandibulo-facial of having abnormally small teeth [1]. According to Boyle, syndrome, Tricho-Rhino-Phalangeal, type1 Branchio- “in general microdontia, the teeth are small, the crowns oculo-facial syndrome. short, and normal contact areas between the teeth are fre- Supernumerary teeth are defined as any supplementary quently missing” [2] Shafer, Hine, and Levy [3] divided tooth or tooth substance in addition to usual configuration microdontia into three types: (1) Microdontia involving of twenty deciduous and thirty two permanent teeth [7].
  • Experiences of Rare Diseases: an Insight from Patients and Families

    Experiences of Rare Diseases: an Insight from Patients and Families

    Experiences of Rare Diseases: An Insight from Patients and Families Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk By Lauren Limb, Stephen Nutt and Alev Sen - December 2010 Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases. RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders | Research in November 2008 following the European Commission’s | Prevention and diagnosis Communication on Rare Diseases: | Treatment and care Europe’s Challenges. | Information Subsequently RDUK successfully | Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the
  • Peripheral Neuropathy in Complex Inherited Diseases: an Approach To

    Peripheral Neuropathy in Complex Inherited Diseases: an Approach To

    PERIPHERAL NEUROPATHY IN COMPLEX INHERITED DISEASES: AN APPROACH TO DIAGNOSIS Rossor AM1*, Carr AS1*, Devine H1, Chandrashekar H2, Pelayo-Negro AL1, Pareyson D3, Shy ME4, Scherer SS5, Reilly MM1. 1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 2. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 3. Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy. 4. Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA 5. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19014, USA. * These authors contributed equally to this work Corresponding author: Mary M Reilly Address: MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK. Email: [email protected] Telephone: 0044 (0) 203 456 7890 Word count: 4825 ABSTRACT Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and non- neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories - 1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g.
  • Opsoclonus-Myoclonus Syndrome

    Opsoclonus-Myoclonus Syndrome

    OMS Opsoclonus-Myoclonus Syndrome REGISTRY POWERED BY NORD 10 11 Tr io Health © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. Tr io Health Meet OMS Warrior ALEXA What is OMS? OPSOCLONUS-MYOCLONUS SYNDROME General Discussion Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often occurring as a paraneoplastic syndrome with neurological symptoms being the first sign of an occult tumor. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is oftentimes abrupt and can be relatively severe, with the potential to become chronic unless the appropriate diagnosis and treatment are reached in a timely manner. Signs and Symptoms The component features of OMS include the presence of rapid, seemingly random eye movements in the horizontal, vertical, and diagonal directions (opsoclonus); an unsteady gait or inability to walk or stand (ataxia); and brief, repetitive, shock-like muscle spasms or tremors within the arms, legs, or hands interfering with normal use (myoclonus). Behavioral and sleep disturbances, including extreme irritability, inconsolable crying, reduced or fragmented sleep (insomnia), and rage attacks are common. Difficulty articulating speech (dysarthria), sometimes with complete loss of speech and language, may occur. Additional symptoms, such as decreased muscle tone (hypotonia) and vomiting, have also been noted. Causes The most common cause of OMS in young children is an occult (ie, a small, often hidden) tumor. The symptoms of OMS, as a paraneoplastic syndrome, presumably stem from the immune system attacking the tumor, leading to secondary inflammatory effects on the central nervous system.
  • Saethre-Chotzen Syndrome

    Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome Authors: Professor L. Clauser1 and Doctor M. Galié Creation Date: June 2002 Update: July 2004 Scientific Editor: Professor Raoul CM. Hennekam 1Department of craniomaxillofacial surgery, St. Anna Hospital and University, Corso Giovecca, 203, 44100 Ferrara, Italy. [email protected] Abstract Keywords Disease name and synonyms Excluded diseases Definition Prevalence Management including treatment Etiology Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Saethre-Chotzen Syndrome (SCS) is an inherited craniosynostotic condition, with both premature fusion of cranial sutures (craniostenosis) and limb abnormalities. The most common clinical features, present in more than a third of patients, consist of coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. The estimated birth incidence is 1/25,000 to 1/50,000 but because the phenotype can be very mild, the entity is likely to be underdiagnosed. SCS is inherited as an autosomal dominant trait with a high penetrance and variable expression. The TWIST gene located at chromosome 7p21-p22, is responsible for SCS and encodes a transcription factor regulating head mesenchyme cell development during cranial tube formation. Some patients with an overlapping SCS phenotype have mutations in the FGFR3 (fibroblast growth factor receptor 3) gene; especially the Pro250Arg mutation in FGFR3 (Muenke syndrome) can resemble SCS to a great extent. Significant intrafamilial
  • Genetics of Congenital Hand Anomalies

    Genetics of Congenital Hand Anomalies

    G. C. Schwabe1 S. Mundlos2 Genetics of Congenital Hand Anomalies Die Genetik angeborener Handfehlbildungen Original Article Abstract Zusammenfassung Congenital limb malformations exhibit a wide spectrum of phe- Angeborene Handfehlbildungen sind durch ein breites Spektrum notypic manifestations and may occur as an isolated malforma- an phänotypischen Manifestationen gekennzeichnet. Sie treten tion and as part of a syndrome. They are individually rare, but als isolierte Malformation oder als Teil verschiedener Syndrome due to their overall frequency and severity they are of clinical auf. Die einzelnen Formen kongenitaler Handfehlbildungen sind relevance. In recent years, increasing knowledge of the molecu- selten, besitzen aber aufgrund ihrer Häufigkeit insgesamt und lar basis of embryonic development has significantly enhanced der hohen Belastung für Betroffene erhebliche klinische Rele- our understanding of congenital limb malformations. In addi- vanz. Die fortschreitende Erkenntnis über die molekularen Me- tion, genetic studies have revealed the molecular basis of an in- chanismen der Embryonalentwicklung haben in den letzten Jah- creasing number of conditions with primary or secondary limb ren wesentlich dazu beigetragen, die genetischen Ursachen kon- involvement. The molecular findings have led to a regrouping of genitaler Malformationen besser zu verstehen. Der hohe Grad an malformations in genetic terms. However, the establishment of phänotypischer Variabilität kongenitaler Handfehlbildungen er- precise genotype-phenotype correlations for limb malforma- schwert jedoch eine Etablierung präziser Genotyp-Phänotyp- tions is difficult due to the high degree of phenotypic variability. Korrelationen. In diesem Übersichtsartikel präsentieren wir das We present an overview of congenital limb malformations based Spektrum kongenitaler Malformationen, basierend auf einer ent- 85 on an anatomic and genetic concept reflecting recent molecular wicklungsbiologischen, anatomischen und genetischen Klassifi- and developmental insights.
  • MEDICAL GENETICS RESIDENCY PROGRAM Department of Pediatrics

    MEDICAL GENETICS RESIDENCY PROGRAM Department of Pediatrics

    MEDICAL GENETICS RESIDENCY PROGRAM Department of Pediatrics University of Michigan Health Systems (734) 763-6767 1500 E. Medical Center Drive (734) 763-6561 (fax) D5240 MPB Ann Arbor, MI 48109-5718 Biochemical Genetics Goals and Objectives Director: Drs. Ayesha Ahmad and Shane C. Quinonez The goals and objectives of the Biochemical Genetics Clinic rotation in the Medical Genetics Residency Program are to provide the resident with exposure to all aspects of care of metabolic disease and counseling in accordance with the Residency Review Committee for Medical Genetics expectations and to fulfill criteria for board eligibility by the American Board of Medical Genetics. Patient Care The resident will become familiar with the evaluation, diagnosis and management of urea cycle disorders, organic acidemias, disorders of carbohydrate and lipid metabolism and numerous other inborn errors of metabolism (IEMs). Residents will gain exposure in performing and expertise in interpreting biochemical analyses relevant to the diagnosis and management of human genetic diseases. By the end of the rotation the resident should be able to identify signs and symptoms of IEMs, formulate a differential diagnosis, order appropriate tests and recognize normal variants and complex patterns of metabolites. Residents will be able to manage acute metabolic crises and provide chronic management of patients with an IEM. Residents should be able to interpret NBS results, collaborate with the primary provider to act upon results in a timely manner, develop a differential diagnosis and order appropriate confirmatory testing and communicate results to families. Medical Knowledge Through coursework and didactic sessions with attending physicians, residents will become familiar with fundamental concepts, molecular biology and biochemistry relevant to IEMs.