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3,658 Possible Causes for Congenital, HYPOPLASIA,, Krabbe, MUSCULAR, OF, UNIVERSAL

  • Congenital Muscular Dystrophy

    There was marked pontine, and inferior vermian hypoplasia and fused midbrain colliculi [Figure - 2] a).[neurologyindia.com] Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. Review.[ghr.nlm.nih.gov] MALATTIA DI KRABBE MALATTIA DI KUFS MALATTIA DI LA PEYRONIE MORBO DI LARSEN SINDROME DI LEIGH MALATTIA DI LESCH-NYHAN LEUCEMIA LEUCODISTROFIA METACROMATICA LEUCOENCEFALOMIELITE[birdfoundation.org] Author information 1 Division of Neuropaediatrics, University Children's Hospital Basel, Switzerland; Department of Neurology, University Hospital Basel, Switzerland.[ncbi.nlm.nih.gov] Other common findings include hydrocephalus, brainstem and/or cerebellar hypoplasia, cerebellar cysts, cobblestone lissencephaly, and polymicrogyria.[symptoma.com] Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases.[en.wikipedia.org]

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  • Poland Syndrome

    […] pectoralis muscles, this represents a previously undefined and real condition called anterior thoracic hypoplasia.[ncbi.nlm.nih.gov] However, the association of congenital hemangioma with Poland sequence has not been observed so far.[ncbi.nlm.nih.gov] 756.89 Fong's syndrome (hereditary osteoonychodysplasia) 756.89 HOOD (hereditary osteo-onychodysplasia) 756.89 Horn iliac 756.89 Hypoplasia, hypoplasis 759.89 muscle 756.89 Krabbe's[icd9data.com] , Cambridge University Hospitals NHS Foundation Trust Cambridge, Cambridge, United Kingdom.[ncbi.nlm.nih.gov] He was diagnosed as having peroneal muscular atrophy and Poland syndrome, an association of which has not been reported before.[ncbi.nlm.nih.gov] […] of Poland syndrome with multiple congenital melanocytic nevi (CMN).[jamanetwork.com]

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  • Pontocerebellar Hypoplasia Type 1B

    […] type 1 • • • Back to: « Pontocerebellar hypoplasia, type 1b Back to: « Pontocerebellar hypoplasia Disease Articles Pontocerebellar hypoplasia : Pontocerebellar hypoplasia[familydiagnosis.com] Krabbe disease LAMA2-related muscular dystrophy Leigh syndrome, French-Canadian type Lipoamide dehydrogenase deficiency Lipoid congenital adrenal hyperplasia LOXHD1-related[jscreen.org] He then served for 20 years on the faculty at Washington University in St.[books.google.de] BACKGROUND: RNA dysregulation is emerging as an important etiology of neurodegeneration in a broad range of neurological disorders including spinal muscular atrophy, amyotrophic[neurology.org] PCH1 is characterized prenatally often by polyhydramnios with arthrogryposis mutiplex congenital.[orpha.net] , with Anhidrosis Interleukin 1 Receptor Antagonist Deficiency J Joubert Syndrome K Kallmann Syndrome 2 KELL Antigen Kennedy Disease – Spinal and Bulbar Muscular Atrophy Krabbe[hfi-ivf.com]

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  • Myopathy

    Physical examinations showed that he was short in stature (height, 164.4 cm; weight, 79.1 kg) with a dysmorphic face, including hypertelorism, midface hypoplasia, and chin[ncbi.nlm.nih.gov] KEYWORDS: Centronuclear myopathy; MTM1; SPEG; congenital myopathy; myotubular myopathy; myotubularin[ncbi.nlm.nih.gov] DI EPILESSIA MIOCLONICA PROGRESSIVA ERB DISTROFIA DI EREDOPATIA ATASSICA POLINEURITIFORME GANGLIOSIDOSI GERSTMANN SINDROME DI KEARNS-SAYRE SINDROME DI KENNEDY MALATTIA DI KRABBE[santobonopausilipon.it] Author information 1 Division of Neurophysiology, Ulm University, Ulm, Germany. 2 Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. 3[ncbi.nlm.nih.gov] Expert diagnostic services and treatment are provided for patients with common and rare disorders of the muscular system, including muscular dystrophies.[bcm.edu] Affected infants often have distinctive facial features including a high forehead, underdevelopment of the middle of the face (midface hypoplasia), weakness of facial muscles[rarediseases.org]

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  • Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome

    We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia[ncbi.nlm.nih.gov] Congenital pulmonary stenosis and helix dysplasia can be associated.[ncbi.nlm.nih.gov] […] sulfite oxidase deficiency isovaleric acidemia Jeune asphyxiating thoracic dystrophy Joubert syndrome Junctional epidermolysis bullosa Kell isoimmunization Kennedy disease Krabbe[igenomix.us] Hospital and National Taiwan University College of Medicine, Taipei, Taiwan ; 3 Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University[molvis.org] […] pandysautonomia Acute pure sensory neuropathy Acute sensory ataxic neuropathy Adenylosuccinate lyase deficiency Adolescent-onset epilepsy syndrome Adrenomyeloneuropathy Adult Krabbe[se-atlas.de] Management and treatment Management includes regular ophthalmologic evaluation with prescription of optical aids, physical, speech and occupational therapy for muscular re-education[orpha.net]

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  • Lethal Congenital Contracture Syndrome 1

    […] rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia[rarediseases.info.nih.gov] Prevention - Lethal congenital contracture syndrome 1 Not supplied. Diagnosis - Lethal congenital contracture syndrome 1 Not supplied.[checkorphan.org] What is Krabbe Disease? Krabbe Disease is an autosomal recessive disorder.[natera.com] Katri Vuopala Department of Clinical Genetics, Oulu University Hospital and University of Oulu, Oulu 90014, Finland.[dx.doi.org] Davies , Chapter 16 Spinal Muscular Atrophy , Motor Neuron Disorders , 10.1016/S1877-3419(09)70117-5 , (401-cp2) , (2003) .[doi.org] […] sulfite oxidase deficiency isovaleric acidemia Jeune asphyxiating thoracic dystrophy Joubert syndrome Junctional epidermolysis bullosa Kell isoimmunization Kennedy disease Krabbe[igenomix.us]

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  • Congenital Fiber-Type Disproportion Myopathy

    The association with cerebellar hypoplasia was documented by Sarnat ( Sarnat 1985 ).[medlink.com] Congenital myopathy with fiber type disproportion (CFTD) is an established disorder of congenital myopathy.[ncbi.nlm.nih.gov] […] changes to muscle tissue that characterize the disorder can also occur in association with many other disorders or conditions including other congenital muscle disorders, Krabbe[checkorphan.org] […] of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Pediatrics, Tokyo Women's Medical University[ncbi.nlm.nih.gov] […] important diagnostic signs of a congenital muscular disease.[ncbi.nlm.nih.gov] , Ulsan University College of Medicine, Seoul 138-736, Korea.[jpatholtm.org]

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  • Congenital Muscular Dystrophy Type 1D

    CMD 4 : Walker-Warburg syndrome , most severe , with cobblestone brain, massive ventriculomegaly with absent/abnormal callosum, no myelin, kinked pons midbrain, vermian hypoplasia[radiopaedia.org] Entry H01962 Disease Name Congenital muscular dystrophy type 1D Supergrp Muscular dystrophy-dystroglycanopathy type B [DS: H01960 ] Congenital muscular dystrophies (CMD/MDC[genome.jp] […] dehydrogenase deficiency Adenine phosphoribosyltransferase deficiency Adenosine monophosphate deaminase deficiency Adenylosuccinate lyase deficiency Adrenomyeloneuropathy Adult Krabbe[se-atlas.de] […] of London in England and George Washington University in Washington, D.C.[musculardystrophynews.com] These siblings also had underdevelopment of the cerebellum (cerebellar hypoplasia), which can cause problems with balance and coordination.[rarediseases.org] Typical findings on cerebral imaging include abnormal gyral formation as outlined above, a flat brainstem, and cerebellar hypoplasia. 82 A first non-Japanese case has now[jamanetwork.com]

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  • Neonatal Hypotonia

    They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low set ears[ncbi.nlm.nih.gov] Here we report the case of a child presenting at birth with a lethal form of neonatal hypotonia associated with an atypical congenital myopathy.[ncbi.nlm.nih.gov] Griscelli syndrome Type 1 (Elejalde syndrome) Disorder Growth Hormone Disorder Pituitary Dwarfism Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency [6] Krabbe[en.wikipedia.org] , Portland, OR 97239, USA. 6 Department of Pediatrics and Division of Medical Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. 7 Department[ncbi.nlm.nih.gov] The most common muscular dystrophy in children is Duchene muscular dystrophy.[neuropathology-web.org] A micropenis was described in one patient and hypoplasia of the labia minora was reported in two females.[ncbi.nlm.nih.gov]

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  • Skeletal Defects, Genital Hypoplasia, and Mental Retardation

    Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Other congenital malformations H00969 Skeletal defects, genital hypoplasia, and[genome.jp] MALATTIA DI RCG180 ALTRE MALATTIE DA ACCUMULO LISOSOMIALE (le patologie sottoelencate, pur incluse nel gruppo, sono codificate come indicato tra parentesi) AUSTIN, SINDROME DI KRABBE[amaram.it] Pedley, MD, Chair of the Department of Neurology at Columbia University, joins Dr. Rowland as co-editor.[books.google.de] This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.de] Oxford University Press, New York—Oxford Google Scholar 22. McKusick VA (1997) Mendelian Inheritance in Man. 13th ed.[link.springer.com] ., abnormal position of the kidney) and/or protrusion of a portion of the intestines through an abnormal opening in the muscular wall of the abdomen into the groin area (inguinal[rarediseases.org]

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