Create issue ticket

14 Possible Causes for Generalized Motor Seizure, Prominent High Nasal Root

  • Angelman Syndrome

    motor seizures are commonly seen.[epilepsy.com] 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] […] partial motor seizures are commonly seen.[epilepsy.com]

  • Wolf Hirschhorn Syndrome

    Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] Microcephaly, hypertelorism, prominent glabella, high arched eyebrows, broad nose, short philtrum, downturned corners of the mouth, dysplastic ears with pits/tags.[genetics4medics.com]

  • Qazi-Markouizos Syndrome

    […] delay Elevated hepatic transaminase Hypoglycemia Generalized myoclonic seizures Apnea Decreased liver function Fetal distress Abnormality of metabolism/homeostasis Anemia[mendelian.co] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov] Decreased nerve conduction velocity Abnormality of glycosphingolipid metabolism Low-set ears Hallucinations Ventriculomegaly Prenatal movement abnormality Short stature Motor[mendelian.co]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] heart failure Generalized muscle weakness Microcephaly Proximal muscle weakness Rigidity Apnea Tics Muscular dystrophy Minicore myopathy Hypertrophic cardiomyopathy Short[mendelian.co] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Arrhythmia Pica High palate Motor delay Micrognathia Strabismus Failure to thrive Intellectual disability Talipes equinovarus Feeding difficulties Hypertelorism Congestive[mendelian.co]

  • Classic Multiminicore Myopathy

    Affected children do not reach any motor or mental milestone and commonly have seizures and need gastric tube feeding.[cyberleninka.org] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] The main clinical manifestations depend on the severe involvement of muscle, eye and brain that in general are not compatible with survival beyond 2-3 years of age.[cyberleninka.org]

  • Renpenning Syndrome 1

    ( 25%) Tantrums and/or self-injurious and aggressive behaviors Impaired motor development with toe walking, hypotonia, general clumsiness Catatonia syndrome ( 15%) Obesity[centogene.com] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] , type 2269700 BSCL2126.410.99Neuropathy, distal hereditary motor, type VA,600794 BSCL2126.410.99Silver spastic paraplegia syndrome,270685 BTD163.810.99Biotinidase deficiency[qgenomics.com]

  • Schinzel-Giedion Syndrome

    […] nerve conduction velocity Postnatal microcephaly Talipes Abnormality of the cerebral white matter Narrow forehead Kyphoscoliosis Status epilepticus Generalized seizures Stereotypy[mendelian.co] , prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.[dukespace.lib.duke.edu] Congenital diaphragmatic hernia Nail dystrophy Smooth philtrum Microtia Cortical visual impairment Upslanted palpebral fissure Sensorimotor neuropathy Coloboma Decreased motor[mendelian.co]

  • Coffin-Siris Syndrome 2

    Motor development is characterized by early generalized hypotonia and difficulties in ambulating and a clumsy gait later on.[alliedacademies.org] MRD23 patients manifest moderate to severe intellectual disability with additional variable features of brachycephaly, a low hairline, depressed nasal bridge, prominent high[genecards.org] Epileptic seizures affect approximately 5% of individuals like in our patient with different semiology (focal, focal with secondary generalization and myoclonic) and variable[alliedacademies.org]

  • MORM Syndrome

    In the 2015 study, clinical diagnostic criteria included at least 4 of the following: Normal or near-normal cognitive and motor development before seizure onset Two or more[dravetfoundation.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 Reduced[rarediseases.info.nih.gov] 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]

  • Autosomal Recessive Mental Retardation Type 3

    About 30% of patients develops other seizure types, such as hemiconvulsions, motor seizures or generalized tonic-clonic seizures 42.[centogene.com] 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] AND SENSORY NEUROPATHY VI Nav1.1 (K74/71) GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 SEVERE MYOCLONIC EPILEPSY OF INFANCY FAMILIAL HEMIPLEGIC MIGRAINE, TYPE[neuromab.ucdavis.edu]

Further symptoms