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12 Possible Causes for Delayed Speech Development, Overfolded Superior Helix, Seizure

  • 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] speech development or no speech Abnormal skin pigmentation (see photos) Repetitive behaviors (stereotypy) Difficulties with walking Feeding difficulties Impaired vision Hearing[forgottendiseases.org]

  • 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] Skeletal malformations appear gradually in most cases and may include delayed bone development, spinal kyphosis/scoliosis, and pectus carinatum or excavatum.[orpha.net]

  • Camptodactyly Syndrome Guadalajara Type 1

    […] can lead to fall injuries affecting the head, or cause bone fractures Status Epilepticus is a seizure that lasts longer than normal.[dovemed.com] speech and language development Ptosis Rare Symptoms - Less than 30% cases Intellectual disability, mild Malar flattening Hypoplasia of the maxilla Edema Inguinal hernia[mendelian.co] 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]

  • 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] , Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech[rarediseases.oscar.ncsu.edu]

  • 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] speech and language development Esophageal carcinoma Clinodactyly of the 5th toe Abnormality of the voice Chest pain Cough Nausea and vomiting Lymphadenopathy Kyphoscoliosis[mendelian.co]

  • 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] His general assessment at the age of four years was satisfactory except for delayed speech and language. » Discussion The fifth week of embryonic development is crucial to[ijps.org]

  • Branchio-Oculo-Facial Syndrome

    […] 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] Psychomotor performance is usually normal, but development delays, hypotonia, and visual, hearing, and speech problems are common.[ncbi.nlm.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] Learning difficulties and seizures may occur in childhood.[mendelian.co] development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia.[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] 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] speech and language development Epicanthus Micrognathia Diffuse demyelination of the cerebral white matter Amenorrhea Abnormality of eye movement Camptodactyly of finger[mendelian.co]

  • Verloove-Van Horick-Brubakk Syndrome

    helix Overfolding of the superior helices Impaired mastication Atresia of the external auditory canal External ear malformation Abnormality of the outer ear Poroma Aplasia[mendelian.co] Learning difficulties and seizures may occur in childhood.[mendelian.co] 3862 Microcephaly, primary autosomal recessive 3863 Microcephaly, seizures, and developmental delay 3864 Microcephaly-albinism-digital anomalies syndrome 3865 Microcephaly-cardiomyopathy[yumpu.com]

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