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11 Possible Causes for Muscle Hypotonia, Overfolded Superior Helix, Seizure

  • 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] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov]

  • 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] […] sound-startle, a predominantly hypertonic reaction varying from hyperekplexia to a more prolonged tonic reaction resembling startle epilepsy, and true unprovoked epileptic seizures[ncbi.nlm.nih.gov]

  • 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] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar]

  • 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] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.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] […] can lead to fall injuries affecting the head, or cause bone fractures Status Epilepticus is a seizure that lasts longer than normal.[dovemed.com] Seizure 0001250 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322 Short toe Short toes[rarediseases.info.nih.gov]

  • 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] Learning difficulties and seizures may occur in childhood.[mendelian.co]

  • Chudley-McCullough Syndrome

    helix Narrow palpebral fissure Aortic aneurysm Aortic regurgitation Interrupted aortic arch Abnormality of earlobe Sandal gap Cardiomyopathy Coarse facial features Congenital[mendelian.co] […] weakness Muscular hypotonia of the trunk Wide mouth Fibroma Peripheral neuropathy Visual loss Glaucoma Osteoporosis Behavioral abnormality Abnormality of cardiovascular system[mendelian.co] It is important to diagnose CMS, since typically, patients with these types of brain malformations have very substantial developmental problems and seizures; therefore it[depts.washington.edu]

  • Heimler Syndrome

    […] of the superior helices Hypoplastic superior helix Speech articulation difficulties Question mark ear Failure to thrive Thin upper lip vermilion Muscular hypotonia Deeply[mendelian.co] (low muscle tone), seizures, apnea, and an inability to eat. [4] [7] Cause [ edit ] Zellweger syndrome is an autosomal recessive disorder caused by mutations in genes that[en.wikipedia.org] As the disease progresses children commonly deal with global disabilities, vision impairment, adrenal insufficiency and seizures.[zellweger.org.uk]

  • 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] Rare exonic deletions implicate the synaptic organizer gephyrin (GPHN) in risk for autism, schizophrenia and seizures. Hum Mol Genet 2013 ; 22 : 2055 – 2066. 16.[cambridge.org]

  • 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] The morphology of the seizures varies from infantile spasms or focal motor seizures to generalized tonic or tonic-clonic seizures.[dermaamin.com]

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