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10 Possible Causes for Hearing Problem, Overfolded Superior Helix, Seizure

  • Propionic Acidemia

    , hearing loss, optic atrophy, skin rash, and alopecia.[docslide.us] 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] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    Children with Down syndrome have a higher incidence of infection, respiratory, vision and hearing problems as well as thyroid and other medical conditions.[nads.org] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com]

  • Coffin-Lowry Syndrome

    Cardiac problems, hearing loss, vision loss, problems with speech Mental retardation, which is often worse in males Episodes of brief collapse without loss of consciousness[medindia.net] superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] […] 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

    Intervention for feeding problems as needed in infancy and childhood Eyes. Cataract and ptosis surgery if indicated Hearing loss.[ncbi.nlm.nih.gov] Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar]

  • Baller-Gerold Syndrome

    Shauna has worn a hearing aid since 3 months of age. Luckily, her right ear only has mild loss and to speak with her, you would never think she has a hearing problem.[rtsplace.org] superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] She was started on carbamazepine once again and was seizure-free since then.[annalsofian.org]

  • Kleiner Holmes Syndrome

    […] auditory /verbal processing disorder, attention deficit hyperactivity disorder, intellectual disability, childhood schizophrenia, or emotional/behavioral problems.[en.wikipedia.org] superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] The most common seizure type seen in LKS is focal motor seizure. Focal seizures can become tonic-clonic seizures, also called bilateral convulsion.[epilepsy.com]

  • Branchio-Oculo-Facial Syndrome

    For example, a person with hearing problems should have appropriate supports and prompt attention for any inflammation of the ear.A specialist should observe any kidney problems[en.wikipedia.org] […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] Most common symptoms of BRANCHIOOCULOFACIAL SYNDROME; BOFS Autosomal dominant inheritance Seizures Short stature Pica Hearing impairment More info about BRANCHIOOCULOFACIAL[mendelian.co]

  • Homozygous 11p15-p14 Deletion Syndrome

    Hallmark is bilateral acoustic schwannoma, onset age 18-24 yrs, hearing loss, tinnitus, balance problems.[quizlet.com] helix Central apnea Ankylosis Upper airway obstruction Long penis Neurodevelopmental delay Poroma Snoring Overfolding of the superior helices Speech articulation difficulties[mendelian.co] 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

    problems (audiologists), and other health care professionals may need to systematically and comprehensively plan an affected child's treatment.[rarediseases.org] 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] The morphology of the seizures varies from infantile spasms or focal motor seizures to generalized tonic or tonic-clonic seizures.[dermaamin.com]

  • Isolated Autosomal Dominant Preauricular Tag 1

    Walpole and Hockey described a 29 year old female patient with typical features of the syndrome with severe behavioural problems and mild intellectual handicap.[jofs.in] Clinical Synopsis: INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Microcephaly; [Ears]; Overfolding of superior helix; Large ears; Preauricular tags; Preauricular[genome.jp] […] deletion Brachyolmia type 3 Achard syndrome Chondrodysplasia punctata Sheffield type Fuchs endothelial corneal dystrophy Blount disease Benign familial neonatal-infantile seizures[checkrare.com]

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