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57 Possible Causes for Muscle Hypotonia, Prominent High Nasal Root

  • Rigid Spine Syndrome

    Both, seen at ages 9- and 10-years, presented with delays in motor development milestones, generalized hypotonia, muscle weakness, which was more at the proximal than at distal[cags.org.ae] 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] Showing of 42 80%-99% of people have these symptoms Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Myopathy Muscle tissue disease 0003198 Neck[rarediseases.info.nih.gov]

  • Nemaline Myopathy Type 4

    The main clinical manifestations include weakness (usually most severe in the face, the neck flexors and the proximal limb muscles), hypotonia and depressed or absent deep[orpha.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] People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face[malacards.org]

  • Angelman Syndrome

    Cerebellar ataxia, muscle hypotonia and tremor, though constant in childhood, tend to be attenuated in adulthood.[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] hypotonia, EEG abnormalities, and peculiar facies marked by a protruding jaw and tongue, occipital depression, and blue eyes.[whonamedit.com]

  • Pitt-Hopkins Syndrome

    Low muscle tone (hypotonia). Although most children with PTHS do learn to walk around the age of 4 to 6 many walk with a wide, unsteady gait.[pitthopkins.org.uk] 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

    Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] hypotonia, seizures, and congenital heart defects.[en.wikipedia.org]

  • Qazi-Markouizos Syndrome

    , Flaccid; Muscle Tone, Decreased; Muscle Tone Atonics; Muscle Hypotony; Hypotonias, Unilateral; Hypotonias, Neonatal; Hypotonia, Unilateral; Hypotonia, Neonatal; Hypotonia[reference.md] 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] […] retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres.[rarediseases.info.nih.gov]

  • Chudley-Rozdilsky Syndrome

    ., they presented with marked muscle hypotonia at birth.[symptoma.com] 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] Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber.[linkedlifedata.com]

  • Psychomotor Retardation

    muscle wasting, and severe cerebellar and brainstem atrophy.[ncbi.nlm.nih.gov] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov] All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased[ncbi.nlm.nih.gov]

  • Congenital Disorder of Glycosylation Type 1Q

    Muscle hypotonia developed at the age of 5 months, and severe mental delay, visual impairment, optic atrophy, nystagmus, cerebellar ataxia, and recurrent episodes of reduced[bmcmedgenet.biomedcentral.com] […] bridge ; Prominent, high and nasal root; Tubular nose; [Mouth]; Thin upper lip; Drooling; [Teeth]; Crowded teeth ABDOMEN: [Gastrointestinal]; Chewing abnormalities GENITOURINARY[findzebra.com] All patients presented with early clinical symptoms, mostly muscle hypotonia and visual problems in the first 6 months of life.[academic.oup.com]

  • Chromosome 17p13.1 Deletion Syndrome

    Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High forehead 0000348 High palate Elevated palate Increased palatal height [ more[rarediseases.info.nih.gov] hypotonia - Delay in motor function Delay in fine motor skills Cognitive development Global delay Mild to moderate global delay Global delay Normal at 2 years Mild delay[bmcmedgenet.biomedcentral.com] Studies and imaging: syringomyelia, ventricular septal defect, decreased median nerve motor nerve conduction velocity; renal abnormalities, and median nerve distal compound muscle[gene.sfari.org]

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