Presentation
[…] to see the full profile Clinical Trials Fabry Disease Registry Start of enrollment: 2001 Apr 01 Medical Monitor Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Migalastat in Pediatric Subjects (Aged 12 to Clinical Research Publications & Presentations [doximity.com]
Epidemiology Family history None in most cases Discordance noted in some monozygotic twins Female:Male ratio 4:1 Some subject with APL do not have LMNB2 mutations Genetics Mutations Heterozygous Mutations: A407T; R215Q; Intron 1-6C-T; c.82G-A May be present [neuromuscular.wustl.edu]
The latter may be present at birth but often appears at puberty ( Anderson et al., 1969 ).For a discussion of genetic heterogeneity of congenital generalized hypertrichosis, see HTC1 ( OMIM ). [mendelian.co]
Entire Body System
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Developmental Delay
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES: UMLS MONDO OMIM DOID More info about MENTAL RETARDATION [mendelian.co]
Delay Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism Short-Rib Thoracic Dysplasia 12 Simpson-Golabi-Behmel Syndrome, Type 2 Smith-Magenis Syndrome Spondyloepimetaphyseal Dysplasia, Irapa Type Spondyloepimetaphyseal Dysplasia, X-Linked [familydiagnosis.com]
Join now to see the full profile Journal Articles Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a lys650met mutation in fi... [doximity.com]
Delay Interventions : Dietary Supplement: Iodine; Dietary Supplement: Placebo Sponsors : Göteborg University; Sahlgrenska University Hospital, Sweden Recruiting Conditions : Obesity; Insulin Resistance; Insulin Sensitivity; Beta-Cell Dysfunction; Prediabetes [paidclinicaltrials.org]
Respiratoric
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Sneezing
[…] reflex) (Szeezing from light expose) (Peroutka sneeze) 10 101000 Neurofibromatosis, type II (NF2) (Neurofibromatosis, central type) (Acoustic schwannoma, bilateral) (Bilateral acoustic neurofibromatosis; BANF) (Acoustic neurinoma, bilateral; ACN) 11 [becomerich.lab.u-ryukyu.ac.jp]
Skin
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Eruptions
Bulbous nose Posteriorly rotated ears Kyphosis Behavioral abnormality Upslanted palpebral fissure Coarse facial features Prominent nose Mandibular prognathia Pes cavus Everted lower lip vermilion X-linked recessive inheritance Widely spaced teeth Delayed eruption [mendelian.co]
Musculoskeletal
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Macrocephaly
[…] dysplasia Generalized hypertrichosis Congenital, generalized hypertrichosis Thick vermilion border Dolichocephaly Cardiomyopathy Generalized hirsutism Low-set ears Myopathy Progressive microcephaly Long eyelashes Hypsarrhythmia Deep philtrum Relative macrocephaly [mendelian.co]
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Acrocephaly
(ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome (SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly [becomerich.lab.u-ryukyu.ac.jp]
Neurologic
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Delayed Speech and Language Development
speech and language development Thick eyebrow Short stature Microcephaly Hyperactivity Generalized hypotonia Abnormality of the dentition Aggressive behavior Rare Symptoms - Less than 30% cases Downslanted palpebral fissures Hypertelorism Bulbous nose [mendelian.co]
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Dysarthria
[…] alterations Dysarthria and Abnormal cardiac septum morphology, related diseases and genetic alterations Lymphoma and Apnea, related diseases and genetic alterations Obesity and Abnormality of movement, related diseases and genetic alterations [mendelian.co]
Treatment
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]
Children will be randomized into either a Treatment or Control group. The Treatment group will receive (in addition to standard referrals) neurocognitive habilitation and psychotherapy services as well as parent psychoeducation. [bioportfolio.com]
Genet.. 2015 Oct 23 The management and treatment of children with Fabry disease: A United States-based perspective. Hopkin, R. J.,Jefferies, J. L.,Laney, D. A.,Lawson, V. H.,Mauer, M.,Taylor, M. R.,Wilcox, W. R. ;Mol. Genet. [doximity.com]
Uruguay Muscle features causing hypertrophy Common: Fat infiltration; Connective tissue proliferation Especially calf other muscles Muscle fiber hypertrophy Mass: Neoplasm or Focal myositis Infections Cysticercosis Trichinosis Schistosomiasis Drug treatment [neuromuscular.wustl.edu]
[…] oral glucose; Dietary Supplement: SATIOSTAT treatment oral glucose; Dietary Supplement: Control treatment meal intake; Dietary Supplement: SATIOSTAT treatment meal intake Sponsor : University Hospital, Basel, Switzerland Recruiting Condition : Malignant [paidresearchstudies.org]
Epidemiology
[…] medullary dysplasia; Overgrowth of external genitalia Cardiomyopathy : Occasional Laboratory Hypoglycemia External link: Gene Reviews Myhre Syndrome 8 Mothers against decapentaplegic, drosophila, homolog of, 4 (SMAD4) ; Chromosome 18q21.2; Dominant Epidemiology [neuromuscular.wustl.edu]
Dietary Supplement: phosphorus Sponsor : American University of Beirut Medical Center Recruiting Condition : Obesity Interventions : Dietary Supplement: Probiotic; Dietary Supplement: Placebo Sponsors : Poznan University of Medical Sciences; Department of Epidemiology [paidresearchstudies.org]
Prevention
Assignment, Masking: Single Blind Conditions Fetal Alcohol Syndrome Intervention neurocognitive habilitation Location Children's Research Triangle Chicago Illinois United States 60601 Status Active, not recruiting Source Centers for Disease Control and Prevention [bioportfolio.com]
Apple juice Sponsors : Appalachian State University; Roquette Freres Not yet recruiting Condition : Parkinson's Disease Interventions : Dietary Supplement: niacin; Other: placebo Sponsor : VA Office of Research and Development Recruiting Condition : Prevention [paidresearchstudies.org]
Disease; Obesity Intervention : Dietary Supplement: High-fat diet Sponsors : Loughborough University; Nottingham Trent University; Nottingham University Hospitals NHS Trust Recruiting Condition : Clostridium Difficile Intervention : Dietary Supplement: Prevention [paidclinicaltrials.org]