Patient Presentation The boy was born from unrelated healthy parents of Italian descent and presented with hypotonia, arthrogryposis (mainly distal), and severe respiratory distress since birth. [frontiersin.org]

First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an [en.wikipedia.org]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

[…] unfortunately is common for this phenotypic presentation. [ojrd.biomedcentral.com]

• Hemophilia A

  Anophthalmos-1 (2) Anophthalmos-1 (with mental retardation but without anomalies) 306900 306900 23.31 Hemophilia B (3) Hemophilia B (3); Warfarin sensitivity (3) Coagulation factor IX (plasma thromboplastic component) distal to HPRT; proximal part of [users.snowcrest.net]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  […] rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome, Verma-Naumoff type Short stature, Brussels type Short stature-auditory canal [se-atlas.de]

  Her symptoms include hypotonia, speech apraxia, hyperopia with esotropia, ptosis, distal arthrogryposis with ulnar deviation, reduced range in hips knees and shoulders, edema on hands and feet, short stature, short neck, carp-shaped mouth, drooling, oropharyngeal [globalgenes.org]

  GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE; GAN1 Is also known as gan;gan Related symptoms: Autosomal recessive inheritance Intellectual disability Global developmental delay Short stature Generalized hypotonia SOURCES: UMLS SCTID MONDO DOID ORPHANET [mendelian.co]

• Feeding Difficulties

  Additional features include global developmental delay with poor or absent speech and impaired intellectual development, feeding difficulties and poor growth, hypotonia, hypogenitalism, and spasticity. [malacards.org]

  Feeding difficulties MedGen UID: 65429 •Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. [ncbi.nlm.nih.gov]

  Adducted thumb Drooling Sleep disturbance Clonus Feeding difficulties in infancy Gait ataxia Pectus excavatum Intellectual disability, mild Dysphagia Delayed speech and language development Microcephaly Follicular hyperkeratosis Hyperkeratosis Abnormal [mendelian.co]

  Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Intellectual disability-facial dysmorphism-hand anomalies syndrome Intellectual disability-feeding [se-atlas.de]

• Falling

  In his keynote address, Brian Goodell, MD, from the Hunter Group, will tell Milestone participants how to Turn the Tide on Falling Operating Margins. [medical-dictionary.thefreedictionary.com]

  Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Torticollis Pachygyria EMG: myopathic abnormalities Abnormal palate morphology Knee flexion contracture Congenital hip dislocation Elbow flexion contracture Frequent falls [mendelian.co]

  You relay to fall CSS called NET. The Essential Ellen of over 325 billion following parentheses on the picture. Prelinger Archives brainstem not! [spearnet.tw]

  TAS are flexor or extensor and occur more frequently during NREM sleep; they can occur during wakefulness, associated with falls from standing. Seizures are brief: if longer than 10 s they become tonic–vibratory (Genton & Dravet, 2007). [doctiktak.com]

• Underweight

  Underweight women had children with the least GM scores. [docplayer.net]

• Chills

  Following digestion, the DNA was denatured by diluting the reaction mixture with 15 μl of 95% formamide, 10mM NaOH, 0.05% xylene cylanol and 0.05% bromophenol blue, and incubating at 95° C. for 3 min followed by chilling on ice. [google.sr]

• Respiratory Distress

  Neonatal respiratory distress MedGen UID: 924182 •Concept ID: C4281993 • Finding Respiratory difficulty as newborn. Drooling MedGen UID: 8484 •Concept ID: C0013132 • Finding Habitual flow of saliva out of the mouth. [ncbi.nlm.nih.gov]

  The patient required endotracheal intubation and stayed at the pediatric intensive care unit for the first 6 weeks of life due to respiratory distress syndrome and necrotizing enterocolitis. [frontiersin.org]

  distress, arthrogryposis multiplex congenita, muscle weakness, and ptosis, suggesting dysfunction of neuromuscular transmission in utero.[5] A third family identified by Hirata et al. (2013) had previously been reported by Hennekam et al. (1991).[10] [en.wikipedia.org]

  distress type 1 Spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinocerebellar ataxia type 1 Spinocerebellar [se-atlas.de]

• Pneumonia

  In addition, relatively unknown facial dysmorphism, ocular symptoms, and gastrointestinal and respiratory symptoms such as poor feeding and aspiration pneumonia were also observed. [annchildneurol.org]

  […] incontinence Neuronal loss in central nervous system Poor speech Abnormality of eye movement Long face Constipation Camptodactyly Hydronephrosis Long toe Suicidal ideation Hyperextensible hand joints Micrognathia Short neck Infantile onset Edema Kyphosis Pneumonia [mendelian.co]

  One sibling developed restrictive lung disease and died of pneumonia at age 37 years [29, 30]. CFZS results from recessive mutations in the MYMK gene [31]. [ojrd.biomedcentral.com]

• Palpitations

  Total More information Patient Medical History Cardiovascular Abnormal Electrocardiogram Aortic Stenosis Atrial fibrillation Cardiac arrest Chest pain Congestive heart failure Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral [docplayer.net]

• Arthralgia

  […] neovascularization High-frequency sensorineural hearing impairment Arterial rupture Keloids Cleft soft palate Bladder diverticulum Constrictive median neuropathy Disproportionate tall stature Hyperextensible thumb Congenital adrenal hyperplasia Osteomalacia Arthralgia [mendelian.co]

• Myalgia

  […] susceptibility to fractures Decreased body weight Blue sclerae Single transverse palmar crease Arachnodactyly Poor head control Umbilical hernia Abnormal hand morphology Abnormality of the hand Spastic paraparesis Severe muscular hypotonia Soft skin Cachexia Myalgia [mendelian.co]

• Photophobia

  579590, April 6, 2Spermine synthase deficiency (SMS)XLID-infantile seizures, Rett like (CDKL5, STK9)Monoamine oxidase-A deficiency (MAOA)Norrie (NDP)Partington, West, Proud, XLAG (ARX)OFCD, Lenz microphthalmia (BCOR)Ichthyosis follicularis, atrichia, photophobia [docslide.com.br]

• Skin Disease

  disease Rare skin disease Rare surgical thoracic disease Rare syndromic intellectual disability Rare systemic or rheumatologic disease Rare urogenital disease Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Renier-Gabreels-Jasper [se-atlas.de]

• Behavior Disorder

  Adaptive behavior in autism and pervasive developmental disorder-not otherwise specified: microanalysis of scores on the Vineland Adaptive Behavior Scales. J Autism Dev Disord 2004;34: 223–8. [16] Brunklaus A, Ellis R, Reavey E, Forbes GH, Zuberi SM. [docksci.com]

  Adaptive behavior in autism and pervasive developmental disorder-not otherwise specified: Microanalysis of scores on the Vineland Adaptive Behavior Scales. Journal of Autism and Developmental Disorders, 34, 223–228. Perry, A., Flanagan, H. [slideheaven.com]

  […] feature X-linked creatine transporter deficiency X-linked dominant chondrodysplasia punctata X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant intellectual disability-epilepsy syndrome X-linked epilepsy-learning disabilities-behavior [se-atlas.de]

  For example, some effects would be increasing the vulnerability to anxiety and mood disorders as well as impulsive/aggressive behaviors. [google.sr]

• Aggressive Behavior

  X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive [se-atlas.de]

  Variation in central serotonin function would have pleiotropic effects beyond behavior. For example, some effects would be increasing the vulnerability to anxiety and mood disorders as well as impulsive/aggressive behaviors. [google.sr]

• Excitement

  “From the second Giules comes in, the staff is always so kind and excited to see her – and they’re like that with all of the children,” DiGiacomo says. Dominic DiGiacomo and his wife, Dr. [omaha.com]

  Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.com]

  This alteration was demonstrated to increase cortical excitability through a reduction of sodium channel density in GABAergic interneurons but not in excitatory glutamatergic neurons [32,33]. [docksci.com]

  Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nat Commun. 2013;4:1952. Article PubMed CAS Google Scholar Grzybowski M, Schanzer A, Pepler A, Heller C, Neubauer BA, Hahn A. [ojrd.biomedcentral.com]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

More Symptoms of Miles-Carpenter x-linked mental retardation syndrome » Treatments See also the following treatment articles: Treatments for Intellectual disabilities Causes See also causal information: Causes of Mental retardation Causes of Intellectual [familydiagnosis.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

The effectiveness of sexual offender treatment for juveniles as measured by recidivism: a meta-analysis. Sexual Abuse: A Journal of Research and Treatment 18 : 401–21. Rheingold, A. A., Zajac, K., Chapman, J. [cambridge.org]

Clonidine – sleeping difficulties Coenzyme Q-10 – suspected mitochondrial condition Keppra, Valium – seizures Prior Treatments Levocarnitine – suspected mitochondrial condition Considered treatments Previously Considered Diagnoses Angelman syndrome Congenital [undiagnosed.hms.harvard.edu]

Novel techniques for measuring cerebral blood flow, metabolism, white matter connectivity, and neural network activation have great potential to improve the accuracy of diagnosis and prognosis for patients with traumatic brain injury (TBI), while also [thieme-connect.com]

The prognosis in both syndromes is poor, with severe psychomotor retardation and intractable epilepsy; almost half die early. [doctiktak.com]

PMID: 28345801 Prognosis Kondo D, Noguchi A, Takahashi I, Kubota H, Yano T, Sato Y, Toyono M, Sawaishi Y, Takahashi T Brain Dev 2018 Oct;40(9):760-767. Epub 2018 May 24 doi: 10.1016/j.braindev.2018.05.003. [ncbi.nlm.nih.gov]

A Primary Care based screening and surveillance are required in order to improve prognosis and quality of life of children with an Autism Spectrum Disorder. [elsevier.es]

Am J Med Genet C Semin Med Genet. 142C:95-103 PubMed CrossRef Google Scholar Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosemia: results of a survey of 350 cases. [link.springer.com]

Synonyms x-linked intellectual disability, miles-carpenter type Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

The etiology is unknown, or brain imaging may show malformations. Female patients predominate. [doctiktak.com]

For the majority of cases of Moebius syndrome, the etiology is unknown. Both genetic and environmental etiologies have been proposed. [ojrd.biomedcentral.com]

Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. [frontiersin.org]

BACKGROUND The etiology of strabismus has a genetic component. Our study aimed to localize the candidate causative gene mutant in a Chinese family with strabismus and to describe its underlying etiology. [pubfacts.com]

The strategy for measuring it could involve using a national system of records capable of demonstrating changes in the prevalence of this disorder in an epidemiologically valid way. [elsevier.es]

Clinical trials are in development regarding the disorder as well, looking to better understand Wieacker syndrome and its possible treatments.[1] Epidemiology[edit] Wieacker syndrome has fewer than 30 confirmed cases, where it usually affects males, but [en.wikipedia.org]

George-Hyslop, Peter and Sleegers, Kristel and ... and EADI and CHARGE and ADGC and GERAD and Cohorts for Heart and Aging Research in Genomic Epidemiology and Genetic and Environmental Risk in Alzheimer's Disease and Alzheimer's Disease Genetic Consortium [query.library.utoronto.ca]

[…] and Statistics Sorbonne Paris Cité, Inserm UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (Epopé), DHU Risks in Pregnancy, Paris Descartes University, Paris, France; and l Division of Parasitology, Department of Microbiology [docplayer.net]

Hurst DL. (1990) Epidemiology of severe myoclonic epilepsy of infancy. Epilepsia 31:397–400. [doctiktak.com]

We also revise the ZC4H2-related molecular functions and clinical phenotypes, speculating on the possible pathophysiology of the complex endocrinological and neuromuscular features observed in our patient. [frontiersin.org]

The underlying genetic and/or pathophysiologic mechanisms involved in each syndrome, and within each individual, also determine the final cognitive outcome. [doctiktak.com]

Chapman & Hall, London, pp 125–144 Google Scholar Gitzelmann R (1995) Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatr 154 [7 Suppl 2]: 45–49 CrossRef Google Scholar Gitzelmann R (2000) Disorders of galactose metabolism. [link.springer.com]

Genetics and pathophysiology of mental retarda-tion. Eur. J. Hum. Genet. 14, 701713.19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mentalretardation. Nat. Rev. Genet. 6, 4657.20. Kleefstra, T., and Hamel, B.C. (2006). [docslide.com.br]

Nairobi, Kenya : United Nations Children’s Fund Kenya Country Office, Division of Violence Prevention, National Center for Injury Prevention and Control, U.S. Centers for Disease Control and Prevention, and the Kenya National Bureau of Statistics. [cambridge.org]

METHODS Population This prospective study (called TOVI) included year-old surviving singletons born to women enrolled in the Malaria in Pregnancy Preventive Alternative Drugs (MiPPAD) study (NCT ). [docplayer.net]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, DÖrk T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefr (2016), J Med Genet, 53(12), Nigral dopaminergic PAK4 prevents [alfredhealth.org.au]

Frequently, individuals with ASD also have an intellectual disability (e.g., Centers for Disease Control and Prevention 2009, 2012, 2014) which compromises their adaptive behavior skills. [slideheaven.com]