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18 Possible Causes for Anteverted Nostril, Buccal Frenulae, Ventricular Septal Defect

  • Smith Lemli Opitz Syndrome

    Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.[ncbi.nlm.nih.gov] 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]

  • Pallister-Hall Syndrome

    septal defect patent ductus arteriosus proximal aortic coarctation respiratory system anomalies laryngeal cleft bifid or hypoplastic epiglottis ab normal lung lobation thoracic[humpath.com] (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] Reported congenital heart defects include patent ductus arteriosus, ventricular septal defect, endocardial cushion defect, mitral and aortic valve defects, and proximal aortic[ajnr.org]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] of the ventricular septum, view from the right ventricle: Di George's syndrome, ventricular septal defect, Macro, autopsy (72367) Defect of the ventricular septum, view from[atlases.muni.cz] 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]

  • Simpson Dysmorphia Syndrome

    […] including pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia[medical-dictionary.thefreedictionary.com] […] 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]

  • Pallister W Syndrome

    The most common defects are Atrioventricular Septal Defect (formally called Endocardial Cushion Defect), Ventricular Septal Defect, Persistent Ductus Arteriosus and Tetralogy[ndss.org] 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]

  • X-Linked Mandibulofacial Dysostosis

    Typically atrial and/or ventricular septal defect 6. Typically proximally placed; uncommonly, preaxial polydactyly or hypoplasia 7.[ncbi.nlm.nih.gov] 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]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    Cardiac anomalies are found in about 80% of cases, and include ventricular septal defect (65%), right-sided aortic arch (35%), tetralogy of Fallot (20%), and aberrant subclavian[rrnursingschool.biz] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    septal defect).[hawaii.edu] 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]

  • Autosomal Dominant Prognathism

    septal defect Cleft palate Seizures Microphthalmia Short nose Open mouth Long philtrum Deep philtrum Failure to thrive Broad forehead Rare Symptoms - Less than 30% cases[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]

  • Helsmoortel-van der Aa Syndrome

    Two patients had an atrial septal defect, and a third had a ventricular septal defect.[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] Associated defects include intellectual impairment ranging from moderate to severe, and congenital heart defects (often atrial or ventricular septal defects), which occur[diapedia.org]

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