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74 Possible Causes for Diffuse Hypomyelination, Dysmorphic Face

  • Congenital Muscular Dystrophy

    Cerebral magnetic resonance imaging revealed diffuse hypomyelination in both cerebral hemispheres; electrophysiological assessment revealed progressive sensorimotor axonal[ncbi.nlm.nih.gov] In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] […] hypoplasia, patchy hypomyelination, and variable callosal hypogenesis and hydrocephalus.[neurologyindia.com]

  • Cockayne Syndrome

    Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Ring Chromosome 18

    hypomyelination.[ncbi.nlm.nih.gov] Ring chromosome 18 [r18] is a rare constitutional chromosomal aberration syndrome, characterized by dysmorphic face, hypoactivity, short stature, and delayed development.[ncbi.nlm.nih.gov] Previously reported brain magnetic resonance imaging (MRI) abnormalities include diffuse hyperintensity in the white matter, which has been regarded as hypomyelination because[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] , and mental retardation, see genitopatellar syndrome absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO[mygenomics.com] Other Clinical Names for Vanishing White Matter Disease Other clinical names of Vanishing White Matter Disease include: Childhood Ataxia with diffuse CNS Hypomyelination ([leukodystrophyresourceresearch.org]

  • X-Linked Spastic Paraplegia Type 2

    Brain magnetic resonance imaging (MRI) reveals patchy or diffuse hypomyelination on T2-weighted images. Patients with pure SPG2 can have very subtle T2 hyperintensity.[rarediseases.info.nih.gov] 0 Edinburgh Malformation Syndrome 0 FACES Syndrome 0 Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0 Faciocardiomelic Syndrome 0 Feingold Trainer[rgd.mcw.edu] Other MR techniques, including MR spectroscopy and diffusion tensor imaging are useful in the diagnosis of the disease.[rarediseases.info.nih.gov]

  • Secondary Myopathy

    MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] General physical examination revealed facial dysmorphism in the form of elongated face, tented upper lip, and retromicrognathia.[annalsofian.org] Facial Inability to bury eyelashes, "peek sign," expressionless face, horizontal smile, inability to whistle, inability to drink through a straw, blowing a balloon.[sites.google.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Mild facial dysmorphism like brachycephaly, mid face retrusion, large ears, and depressed nasal bridge is observed.[iamg.in] Dysmorphic facial features: triangular face, rotated ears, macrocrania, exophtalmia.[autoinflammatory-search.org]

  • Zellweger Syndrome

    Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] Fig.1 Classic facial dysmorphism of Zellweger syndrome. Zellweger (cerebro-hepab-renal) syn-drome is transmitted as an autosomal recessive disorder.[indianpediatrics.net] The typical facial features include macrocephaly, flat occiput, flat face, high forehead with large fontanelles., hyper-telorism, epicanthal folds, upward slanting of palpebral[indianpediatrics.net]

  • X-Linked Spastic Paraplegia Type 34

    […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com] Myotonic Dystrophy Type I 469 Myotonic Dystrophy Type 2 473 Xlinked CharcotMarieTooth 478 Oculodentodigital Dysplasia 479 AicardiGoutières Syndrome 496 Leukoencephalopathy 505 Hypomyelination[books.google.com]

  • Distal Myopathy Type 3

    MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] Facial Inability to bury eyelashes, "peek sign," expressionless face, horizontal smile, inability to whistle, inability to drink through a straw, blowing a balloon.[sites.google.com] Hepatomegaly association Acid maltase deficiency Carnitine deficiency Debranching enzyme deficiency Cataracts, frontal balding, cognitive dysfunction Myotonic dystrophy type 1 Dysmorphic[sites.google.com]

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