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811 Possible Causes for Low Set Ears, Muscle Hypotonia

  • Homocystinuria

    The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[ncbi.nlm.nih.gov] hypotonia at birth; progressive scoliosis, present at birth or within the first year of life; and scleral fragility and increased risk of rupture of the globe.[medicalhomeportal.org] Signs of HCY may include: Poor growth Trouble gaining weight Developmental delays Behavioral difficulties Weak muscle tone (also known as hypotonia) Pale skin and hair Seizures[babysfirsttest.org]

  • Rubinstein-Taybi Syndrome

    In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[medical-dictionary.thefreedictionary.com] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

  • Down Syndrome

    People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[genome.gov] […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.[ghr.nlm.nih.gov]

  • Velocardiofacial Syndrome

    Distinct physical features sometimes associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference[rarediseases.org] These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or[mayoclinic.org] muscles.[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] ears.[ncbi.nlm.nih.gov] It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure[flipper.diff.org]

  • Infantile Neuroaxonal Dystrophy

    A child who shows progressive motor and mental deterioration after the first year of life, who has pyramidal signs, marked muscle hypotonia, but no seizures, suggests to have[ncbi.nlm.nih.gov] Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears.[ninds.nih.gov] The patient was a boy with negative family history who showed progressive neurologic symptoms (deviation of bulbi, muscle hypotonia and quadruplegia in flexion) soon after[semanticscholar.org]

  • 1p32-p31 Deletion Syndrome

    […] malformation Low-set ears • • • Back to: « Chromosome 1p32-p31 deletion syndrome Related Symptom Articles Connective tissue symptoms : What Are Heritable Disorders of Connective[familydiagnosis.com] ; Cutis marmorata ; Generalized hypotonia ; Global developmental delay ; Hydronephrosis ; Hypoplasia of the corpus callosum ; Inguinal hernia ; Intellectual disability ; Low-set[mousephenotype.org] [2011] added one case each.Nevertheless, all cases involving the NFIA gene presented with CNSabnormalities, a range of craniofacial abnormalities includingmacrocephaly, low-set[docslide.com.br]

  • Marshall-Smith Syndrome

    ears Low set ears Lowset ears [ more ] 0000369 Macrogyria 0007227 Malar flattening Zygomatic flattening 0000272 Midface retrusion Decreased size of midface Midface deficiency[rarediseases.info.nih.gov] Other symptoms include diminished muscle tone (hypotonia), muscle weakness, hernias in the abdomen (umbilical hernias), and/or mental retardation.[rarediseases.org] A muscle biopsy was performed because of hypotonia and muscular weakness. Selective hypoplasia of type IIa and IIb fibers was found.[ncbi.nlm.nih.gov]

  • Hypophosphatasia

    […] to thrive short, bowed extremities, generalised hypotonia, a small funnel chest, soft calvaria, very large fontanel, extremely wide cranial sutures, high-arched palate, low-set[bone-abstracts.org] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[decisionsindentistry.com] Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies.[reference.md] ears Low set ears Lowset ears [ more ] 0000369 Motor delay 0001270 Muscular hypotonia of the trunk Low muscle tone in trunk 0008936 Narrow mouth Small mouth 0000160 Neonatal[rarediseases.info.nih.gov] Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).[rarediseases.oscar.ncsu.edu]

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