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12 Possible Causes for Muscle Hypotonia, Overfolded Superior Helix

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[pediatrics.aappublications.org] Low or weak muscle tone 0001252 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Open mouth Gaped jawed appearance Gaped[rarediseases.info.nih.gov]

  • Propionic Acidemia

    There was mild plagiocephaly and overfolding of the superior helix of each ear. The lower lip had loss of tissue in 2 lateral clefts with bulbous tissue in the center.[jamanetwork.com] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[diseaseinfosearch.org]

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound.[ghr.nlm.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]

  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] It is characterized by weak muscle tone (hypotonia), intellectual disability, developmental delay, distinctive facial features, seizures, areas of unusual skin coloring (pigmentation[patientslikeme.com] ), neutropenia (a reduction in the number of white blood cells which may lead to an increased risk for bacterial infections), hypotonia (reduced muscle tone), muscle weakness[onlymyhealth.com]

  • Camptodactyly Syndrome Guadalajara Type 1

    […] suck Respiratory failure Narrow palpebral fissure Frequent falls Generalized muscle weakness Falls Apnea Neonatal hypotonia Respiratory insufficiency Fatigue Facial palsy[mendelian.co] […] lower eyelids Intestinal lymphangiectasia Increased mean platelet volume Macrothrombocytopenia Congenital nystagmus Retinal dysplasia Pericardial effusion Severe muscular hypotonia[mendelian.co] Postnatal microcephaly Short distal phalanx of finger Prominent occiput Dysphagia Infantile onset Skeletal muscle atrophy Nevus Motor delay Multiple joint contractures Poor[mendelian.co]

  • Auriculocondylar Syndrome

    Narrow mouth Overfolding of the superior helices Postauricular skin tag Posteriorly rotated ears Preauricular skin tag Round face Stenosis of the external auditory canal[dovemed.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hamartoma of tongue 0011802 Hearing impairment Deafness Hearing defect [ more ][rarediseases.info.nih.gov] […] ear Dental crowding Dental malocclusion Hypoplastic superior helix Glossoptosis Low-set ears Macrocephaly Mandibular condyle aplasia Mandibular condyle hypoplasia Micrognathia[dovemed.com]

  • Uncombable Hair Syndrome

    helix Short chin Myopathic facies Inverted nipples Pain insensitivity Horizontal eyebrow Oval face Overfolding of the superior helices Broad chin Micrognathia Neurological[mendelian.co] […] weakness Autosomal recessive inheritance Generalized hirsutism Hearing impairment Global developmental delay Generalized hypotonia Scoliosis Abnormal facial shape Low-set[mendelian.co] Broad nasal tip Long face Deeply set eye Delayed myelination Decreased fetal movement Apraxia Muscular hypotonia of the trunk Stereotypy Deep philtrum Poor head control Overfolded[mendelian.co]

  • Isolated Autosomal Dominant Preauricular Tag 1

    Clinical Synopsis: INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Microcephaly; [Ears]; Overfolding of superior helix; Large ears; Preauricular tags; Preauricular[genome.jp] However, characteristic features include short stature; mental retardation; poor muscle tone (hypotonia); malformations of the hands and feet; and abnormalities of the skull[earcommunity.org] (less frequently, hypertonia), weakness (decreased strength), asymmetry of muscle tone and/or movement, alterations in level of consciousness, seizures, single or multiple[ccfpprep.com]

  • Tricho-Oculo-Dermo-Vertebral Syndrome

    The ears are small with overfolding of the superior part of the helix. The EACs are stenotic, especially at the isthmus (bony-cartilaginous junction).[entokey.com] Additional characteristic abnormalities may include mental retardation, diminished muscle tone (hypotonia), and/or skin abnormalities.[rarediseases.org] Muscle hypotonia and delayed gross motor development vi. Easy bruising vii.[cram.com]

  • Homozygous 11p15-p14 Deletion Syndrome

    helix Central apnea Ankylosis Upper airway obstruction Long penis Neurodevelopmental delay Poroma Snoring Overfolding of the superior helices Speech articulation difficulties[mendelian.co] Have grip myotonia (sustained muscle contraction leads to inability to quickly release a hand grip) Congenital hypotonia and severe generalized weakness at birth often with[quizlet.com] […] dysplasia Abnormality of vision Abnormal palate morphology 2-3 toe syndactyly Facial cleft External ear malformation Short philtrum Protruding ear Hydrocele testis Hypoplastic superior[mendelian.co]

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