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107 Possible Causes for Diffuse Hypomyelination, Skeletal Dysplasia

  • Cockayne Syndrome

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[]

  • Hypomyelinating Leukodystrophy Type 5

    , And Sprengel Anomaly, Included Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies Nevoid Basal Cell Carcinoma Syndrome BCNS NBCCS 109400 Genetic Test[] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    dysplasia terminology and diag nosis, and has proved of immense value to its users.[] diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood ...[] OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff[]

  • Bonnemann-Meinecke-Reich Syndrome

    Dysplasia Yunis-Varon Syndrome • • • Back to: « Dolichocephaly Causes List for Dolichocephaly Some of the possible causes of Dolichocephaly or similar disorders may include[] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[] Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.[]

  • Pelviscapular Dysplasia

    Pathogenic (Oct 1, 2010) no assertion criteria provided COL2A1 Stickler syndrome type 1Pathogenic (Nov 1, 2005) no assertion criteria provided COL2A1 Platyspondylic lethal skeletal[] diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood ...[] Camptodactyly joint contractures and facial skeletal dysplasia 0 *Clubfoot *Contracture *Dysostoses *Hand Deformities, Congenital Face/abnormalities.[]

  • Oculo-Palato-Cerebral Syndrome

    […] stature-valvular heart disease-characteristic facies syndrome Short stature-webbed neck-heart disease syndrome Short stature-wormian bones-dextrocardia syndrome Short-limb skeletal[] Sasaki M, Takanashi J, Tada H, et al: Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum. Brain Dev 2009; 31: 582-587.[] […] sequence Celosomial monster Cerebro-costo-mandibular syndrome Cerebro-oculo-facio-skeletal syndrome Cerebrofacial dysplasia Child syndrome Chimera Chronic infantile neurological[]

  • Polyglucosan Body Myopathy Type 2

    Skeletal Skeletal dysplasia Skeletal Small Patella syndrome Skeletal Spondyloepimetaphysal dysplasia Skeletal Spondyloepiphyseal dysplasia Skeletal Spondyloepiphyseal dysplasia[] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[] dysplasia (EISD) Joubert syndrome 2 (JBTS2) – Meckel syndrome 2 (MKS2) Juvenile Nephronophthisis Kohlschuetter-Toenz syndrome (KTZS) Krabbe disease Laron syndrome Late-Infantile[]

  • Pelizaeus-Merzbacher Disease

    dysplasia, Ehlers Danlos syndrome, hyperextensible joints, Beals syndrome, congenital contractural arachnodactyly, other) Cooley anemia (thalassemia major, beta-thalassemia[] Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[] Magnetic resonance imaging (MRI) of the brain had classical features of diffuse hypomyelination which is characteristic of PMD for this age group.[]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    dysplasia autosomal recessive localized hypotrichosis, see autosomal recessive hypotrichosis autosomal recessive long QT syndrome (LQTS), see Jervell and Lange-Nielsen syndrome[] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[] Other Clinical Names for Vanishing White Matter Disease Other clinical names of Vanishing White Matter Disease include: Childhood Ataxia with diffuse CNS Hypomyelination ([]

  • Perinatal Lethal Gaucher Disease

    Dysplasia Society, Southeastern Regional Genetics Group Disclosure: Nothing to disclose.[] […] with ichthyosiform erythroderma and limb defects childhood apraxia of speech , see FOXP2-related speech and language disorder childhood ataxia with central nervous system hypomyelination[] American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal[]

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