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10 Possible Causes for Overfolded Superior Helix, Psychomotor Retardation, 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] All nine patients with pathological EEG discharges developed seizures compatible with the definition of symptomatic epilepsy.[ncbi.nlm.nih.gov] The clinical picture varies from patients presenting with mild psychomotor retardation to those with severe metabolic decompensation with vomiting, dehydration, encephalopathy[webmedcentral.com]

  • Coffin-Lowry Syndrome

    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] Abstract The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    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] As patients pass into adolescence, the syndrome is characterized by a coarse and flat face, macroglossia, prognathism, inverted lower lip and psychomotor retardation with[en.wikipedia.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] KCNQ2 Benign familial neonatal seizures, Epileptic encephalopathy, early infantile, Myokymia KCNQ3 Seizures, benign neonatal KCNT1 Epilepsy, nocturnal frontal lobe LGI1 Epilepsy[genda.com.ar] Rare diseases Search Search for a rare disease Oculocerebrofacial syndrome, Kaufman type Disease definition Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor[orpha.net]

  • Kleiner Holmes Syndrome

    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] […] dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz[rgd.mcw.edu]

  • Baller-Gerold Syndrome

    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] Systemic Features: Infants with type I disease are usually hypotonic from birth but develop spasticity, psychomotor retardation, and hyperreflexia within 6 months.[disorders.eyes.arizona.edu]

  • 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] 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] Seizure 0001250 Percent of people who have these symptoms is not available through HPO Arachnoid cyst Fluid-filled sac located in membrane surrounding brain or spinal cord[rarediseases.info.nih.gov]

  • 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] As the disease progresses children commonly deal with global disabilities, vision impairment, adrenal insufficiency and seizures.[zellweger.org.uk] retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes.[selfdecode.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] The morphology of the seizures varies from infantile spasms or focal motor seizures to generalized tonic or tonic-clonic seizures.[dermaamin.com] retardation, hypotonia, and defective wound healing with atrophic scars.[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] […] deletion Brachyolmia type 3 Achard syndrome Chondrodysplasia punctata Sheffield type Fuchs endothelial corneal dystrophy Blount disease Benign familial neonatal-infantile seizures[checkrare.com] Retardation, Epilepsy, and Craniofacial Dysmorphism; OMIM:177980 Pterygia, Mental Retardation, and Distinctive Craniofacial Features OMIM:178200 Pterygium, Antecubital OMIM[informatics.jax.org]

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