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8,108 Possible Causes for Overfolded Superior Helix, Seizure, Single Transverse Palmar Crease

  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.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]

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] She had focal seizures at five months of age, which were controlled with phenobarbital.[ncbi.nlm.nih.gov] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com]

    Missing: Overfolded Superior Helix
  • 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] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.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]

  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease , broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] , seizure types, early age of onset, EEG pattern, and responses to specific anti-epileptic drugs.[ncbi.nlm.nih.gov] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations.[ncbi.nlm.nih.gov] Standard epileptic drugs are used for seizure control.[orpha.net]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    Epilepsy occurred in 27 (53%) with 23 (85%) of those with seizures having seizure onset prior to 3.5 years of age. Mean age at seizure onset was 2 years and 4 months.[ncbi.nlm.nih.gov] In four cases, seizures were focal, and this was followed by ES in two patients.[ncbi.nlm.nih.gov] The seizures were uncontrollable with sodium valproate monotherapy.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Miller Dieker Syndrome

    Miller Dieker Syndrome as a Cause of Refractory Seizures. Journal of Nepal Paediatric Society, 34 (2), 154-156.[nepjol.info] Lissencephaly Neonates with lissencephaly may present with seizures. The brain of a patient with lissencephaly shows a smooth cortical surface.[pediatricneuro.com] Seizures usually begin before six months of age, and some occur from birth.[malacards.org]

    Missing: Overfolded Superior Helix
  • Pitt-Hopkins Syndrome

    […] and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures.[ncbi.nlm.nih.gov] In addition to the typical features of PTHS, the girl also had paroxysms of tachypnea followed by cyanosis and recurrent seizures.[ncbi.nlm.nih.gov] […] should be in the differential diagnosis of other neurodevelopmental disorders characterized by mental retardation and hypotonicity despite the absence of hyperapnea and seizures[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Aarskog-Scott Syndrome

    transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org] Some recent findings have included cystic changes in the brain and generalized seizures.[streetdirectory.com]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] Almost no patient presented seizures.[ncbi.nlm.nih.gov] Children affected typically are delayed cognitively and physically, with some having tethered cords and seizures.[nj.com]

    Missing: Overfolded Superior Helix

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