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19 Possible Causes for Anteverted Nostril, Buccal Frenulae, Seizure

  • Pallister-Hall Syndrome

    Records for all patients were reviewed for the following information: presence of seizures, age at seizure onset, seizure type, seizure frequency, number of antiepileptic[ncbi.nlm.nih.gov] (anteverted nares) and a broad or flat nasal bridge; and/or an unusually long vertical groove in the middle of the upper lip (philtrum).[rarediseases.org] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Seizures may be difficult to control.[patient.info] nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases[chr7.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Pallister W Syndrome

    My nephew still has giggle fits that are actually seizures.[wintermutedsun.wordpress.com] nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease : may be seen in up to 25% of cases 4 congenital diaphragmatic hernia : may[radiopaedia.org] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Smith Lemli Opitz Syndrome

    Seizures, reported in C, occur in a third of individuals with autism (1).[doi.org] Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    , Spasticity 72 SMC1A hemi c.52C T (p.R18*) X-linked Cornelia de Lange syndrome (300590) ASD, dysphagia, GDD, microcephaly, seizures, status epilepticus, visual impairment[nature.com] nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases[chr7.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Helsmoortel-van der Aa Syndrome

    The patterns of epilepsy encountered are generalized tonic clonic seizures, complex partial seizures, simple partial seizures and myoclonic jerks including infantile spasms[japi.org] nostrils; Depressed nasal bridge; [Mouth]; Small, downturned mouth; High-arched palate; Bifid uvula; [Teeth]; Malocclusion; Abnormal dental eruption; [Neck]; Long neck CHEST[findzebra.com] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

  • X-Linked Mandibulofacial Dysostosis

    Syndrome Microcephaly-Muscular Build-Rhizomelia-Cataracts Syndrome Microcephaly-Oculo-Digito-Esophageal-Duodenal (Moded) Syndrome Microcephaly-Sparse Hair-Mental Retardation-Seizures[neo-genetics.com] The nasal bridge is low and the nostrils anteverted. The zygomatic arches may be absent. The nipples are often missing as well.[disorders.eyes.arizona.edu] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Simpson Dysmorphia Syndrome

    […] early death ("MCAHS2"), (ii) neurodegenerative encephalopathy with systemic iron overload (ferro-cerebro-cutaneous syndrome, "FCCS"), and (iii) intellectual disability and seizures[zora.uzh.ch] […] nares / nostrils - Atrial septal defect / interauricular communication - Broad nose / nasal bridge - Broad / bifid thumb - Camptodactyly of fingers - Cardiac conduction defect[csbg.cnb.csic.es] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur.[mendelian.co] Dolichocephaly, right anterior upsweep of hairline, small nose with flat root, hypoplastic tip and small anteverted nostrils with mouth-breathing facial changes (Fig. la);[docslide.com.br] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Autosomal Dominant Prognathism

    More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012 ).[mendelian.co] Unusual facial features include high broad forehead with variable small chin, short nose with anteverted nares (nostrils that open to the front rather than downward), large[findzebra.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[en.wikibooks.org]

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