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20 Possible Causes for Anteverted Nostril, Buccal Frenulae, Craniosynostosis

  • Pallister-Hall Syndrome

    Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.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] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • X-Linked Mandibulofacial Dysostosis

    Apert syndrome 101200 AD craniosynostosis, brachysphenocephalic acrocephaly, flat facies, high narrow palate Pfeiffer syndrome 101600 AD mild craniosynostosis, flat facies[widesmiles2.org] 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] , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[ctgt.net]

  • Autosomal Dominant Prognathism

    Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.[orpha.net] 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]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    Craniosynostosis of the coronal and sagittal sutures are most common with Crouzon Syndrome.[craniokids.co.za] 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.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]

  • Saethre-Chotzen Syndrome

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] nostrils, thin upper lip, long philtrum, high palate, micrognathia, short neck, enlarged internipple distance, tapering fngers, flat feet, and hypotonia.[nipt.ng] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Smith Lemli Opitz Syndrome

    2 Craniosynostosis Mental Retardation Clefting Syndrome Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig Cree Mental Retardation Syndrome crescentic glomerulonephritis[rgd.mcw.edu] 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

    Agenesis of the corpus callosum, Atrial Septal Defect, micrognathia, broad thumbs, microcephaly, Failure to thrive, developmental delay, very small stature, and craniosynostosis[myresults.org] 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

    […] characteristic craniofacial appearance, and developmental delay. read more Next Generation Sequencing NGS/Del Dup Comprehensive Disease Groups: Neurological and Muscular Disorders Craniosynostosis[ctgt.net] 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] […] nares / nostrils - Atrial septal defect / interauricular communication - Broad nose / nasal bridge - Broad / bifid thumb - Camptodactyly of fingers - Cardiac conduction defect[csbg.cnb.csic.es]

  • Pallister W Syndrome

    Studies of malformation syndromes XXII: Craniosynostosis and craniosynostosis syndromes. Rocky Mountain Med J 66:45–56. Herrmann J, Pallister PD, Opitz JM. 1975.[docksci.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]

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