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11 Possible Causes for Myoclonic Jerking, Prominent High Nasal Root

  • Angelman Syndrome

    In addition, there was improvement in the myoclonic jerks, sleep pattern, and developmental progress.[ncbi.nlm.nih.gov] nasal root. [5] The facial features are characteristic and include: Deep set eyes Strabismus Myopia Marked nasal root Broad and/or beaked nasal bridge Prominent Cupid's bow[en.wikipedia.org] She was initially treated with vigabatrin which resulted in worsening of myoclonic jerks.[ncbi.nlm.nih.gov]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Presents as a sudden jerk followed by stiffening. juvenile myoclonic epilepsy This seizure disorder presents in adolescence with unilateral or bilateral myoclonic jerks, that[quizlet.com] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] Narrow nose Scaphocephaly Aortic root aneurysm Increased body weight Arthrogryposis multiplex congenita Lipodystrophy Aortic aneurysm Mitral valve prolapse Oligohydramnios[mendelian.co]

  • Extrapyramidal Disorder

    […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[orpha.net] Abnormal movements can include myoclonic jerks, tics, chorea, and dystonia.[aafp.org] Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high[orpha.net]

  • Pitt-Hopkins Syndrome

    He receives sodium valproate and clobazam for the myoclonic jerks with satisfactory results.[ncbi.nlm.nih.gov] As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[ncbi.nlm.nih.gov] PTHS can be seen as early as childhood.The earliest signs in infants is the lower face and the high nasal root.[en.wikipedia.org]

  • Wolf Hirschhorn Syndrome

    Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] jerks [ 5 ].[pediatricneurologybriefs.com] jerks until the correct medications could be established.[mynameishugo.org]

  • Chromosome 17p13.1 Deletion Syndrome

    Perioral and eyelid myoclonic jerks may accompany these events.[epilepsydiagnosis.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov] […] nipples 0003186 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Knee flexion contracture 0006380 Long hallux Long big toe 0001847 Prominent[rarediseases.info.nih.gov]

  • Cataract - Ataxia - Short Stature - Mental Retardation (CASM)

    , develop next. • EEG - characteristic pattern of periodic bursts of spike-wave complexes (approximately every 5–7 sec) occurring synchronously with the myoclonic jerk. •[slideshare.net] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk] Absence* may be typical (petit mal) -or Jiypkal and c n often be preci piloted by hyper ventilation Myoclonic seizures Brief, often repetitive., jerking movements of the limbs[archive.org]

  • Coffin-Siris Syndrome 2

    MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high[genecards.org] At 26 months she developed repeated episodes of recurrent generalized convulsions, 3-5 times per day, each lasting up to 3 min, with associated myoclonic jerks in addition[alliedacademies.org] nasal root, tubular nose, upslanting palpebral fissures, long and smooth philtrum, micrognathia, thin upper lip, and crowded teeth.[genecards.org]

  • Ectodermal Dysplasia - Cutaneous Syndactyly Syndrome

    jerks Lafora bodies Giant somatosensory evoked potentials Joint hyperflexibility Ankyloblepharon Attention deficit hyperactivity disorder Melanoma Severe short stature Ranula[mendelian.co] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com] […] neuropathy Difficulty walking Gait ataxia Areflexia EEG with polyspike wave complexes Elevated serum creatine phosphokinase Tremor Peripheral neuropathy Scoliosis Morning myoclonic[mendelian.co]

  • MORM Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Reduced[rarediseases.info.nih.gov] Myoclonic seizures (brief shock-like jerks of a muscle or group of muscles) appear between 1 and 5 years in 85% of children with Dravet syndrome.[epilepsy.com] Characteristic facial features (high-arched or wave-shaped eyelids, thick hair, low hairline, short philtrum as well as long-thick eyelashes, prominent nasal root and upper[orpha.net]

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