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74 Possible Causes for Prominent High Nasal Root, Seizure

  • Angelman Syndrome

    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] Extensor and flexor spasms are not typically described seizure types in Angelman syndrome, and our patient's seizures responded well to a combination of valproic acid and[ncbi.nlm.nih.gov] […] to determine seizure control post-initiation.[ncbi.nlm.nih.gov]

  • Qazi-Markouizos Syndrome

    A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.[doi.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 Seizures[rarediseases.info.nih.gov] Microcephaly Seizures Genital Hypoplasia Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures microcephaly, seizures[rgd.mcw.edu]

  • Wolf Hirschhorn Syndrome

    The mean age of the last seizure for those who were seizure free for 3 years was 11.3 years (range 2-28 years); in the majority of patients, seizures ceased within childhood[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] , seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs.[ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov] Abstract Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor[ncbi.nlm.nih.gov] ;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn, severe psychomotor retardation with hypotonia, global postnatal growth restriction, microcephaly, globally reduced cerebral volume, seizures[ncbi.nlm.nih.gov]

  • Pitt-Hopkins Syndrome

    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] […] and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.[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]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Butterfly frick appearance on face unclassified epileptic seizure a second seizure before the person has fully regained consciousness from the preceding seizure[quizlet.com] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] MELANOSIS, NEUROCUTANEOUS; NCMS Is also known as neuromelanosis;ncm; neurocutaneous melanosis Related symptoms: Intellectual disability Seizures Global developmental delay[mendelian.co]

  • Chudley-Rozdilsky Syndrome

    Arima Syndrome Armfield syndrome Arnold Stickler Bourne Syndrome Arroyo Garcia Cimadevilla Syndrome arterial tortuosity syndrome Arthrogryposis, Mental Retardation, and Seizures[rgd.mcw.edu] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov] Menger Syndrome multiple congenital anomalies-hypotonia-seizures syndrome Myopathy, Cataract, Hypogonadism Syndrome NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES,[rgd.mcw.edu]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Seizure 0001250 Short middle phalanx of finger Short middle bone of finger 0005819 Straight clavicles Straight collarbone 0006587 Stroke 0001297 Thin clavicles Thin collarbone[rarediseases.info.nih.gov] 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] […] respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Seizures[rarediseases.info.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco Related symptoms: Autosomal recessive inheritance Autosomal dominant inheritance Seizures Generalized hypotonia Pica[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] […] disorder 1 seizure disorder/blindness 1 seizure disorder/developmental disorder 1 seizure disorder/Parkinson disease 1 seizure disorder (surgical) 1 seizure disorder, post-traumatic[msdiscovery.org]

  • Extrapyramidal Disorder

    Dysphasia and right-sided hemiplegia became apparent; these conditions were and remained permanent, accompanied by focal seizures and a marked cognitive delay.[ncbi.nlm.nih.gov] […] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.[orpha.net] The second infant was admitted with an extensive burn to his trunk and limbs; 3 days later he became comatose and had intractable seizures, which were more prominent over[ncbi.nlm.nih.gov]

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