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15 Possible Causes for Anteverted Nostril, Buccal Frenulae, Hexadactyly

  • Pallister-Hall Syndrome

    There was vesico-ureteral-reflux, insertional hexadactyly of the left hand and two Y shaped metacarpal with six fingers at the right hand.[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]

  • Smith Lemli Opitz Syndrome

    Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left[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]

  • Curry Hall Syndrome

    The patient was also diagnosed of having Weyer's acrofacial dysostosis which is characterized by hexadactyly affecting all four extremities, small and deeply set nails, dental[journals.cambridge.org] (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] These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org]

  • X-Linked Mandibulofacial Dysostosis

    Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract Syndrome Mesoaxial Hexadactyly-Cardiac[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]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    Feet: Perfect postaxial hexadactyly with nails; mild congenital clubfoot deformity (calcaneo-valgus), and flat feet (Fig. 4). 434 Opitz et al. Fig. 2.[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] nostrils [Fig. 2].[jpgmonline.com]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] short upper limbs, feet deformity: SLOS, Macro, autopsy (73066) Microcephaly, flat occiput, receding forehead, low-set ears, mild micrognathia: SLOS, Macro, autopsy (73067) Hexadactyly[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]

  • Pallister W Syndrome

    Messa, Mariano Rocchi, Maria Grazia Patricelli, Roberto Ciccone, Roberto Giorda & Orsetta Zuffardi Human Genetics (2005) A multiple translocation event in a patient with hexadactyly[nature.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]

  • Autosomal Dominant Prognathism

    With Or Without Cardiac Defects Mental Retardation , Autosomal Dominant 38 Mental Retardation , Autosomal Dominant 40 Mental Retardation , Autosomal Recessive 35 Mesoaxial Hexadactyly[familydiagnosis.com] 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]

  • Simpson Dysmorphia Syndrome

    Lips Grooved Lower Lip Cleft Or Highly Arched Palate Malposition Of The Teeth Abdomen Umbilical Diaphragmatic Or Inguinal Hernia And Occasional Visceroptosis Hand And Foot Hexadactyly[neo-genetics.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]

  • Intraoral Frenula

    Patients with EvC syndrome characteristically presents with congenitally missing teeth, abnormal frenal attachment, microdontia, and hexadactyly.[ 9 ] Oral manifestations[ncbi.nlm.nih.gov] Abstract Introduction The frenula of the oral vestibule include the labial and buccal frenula.[ncbi.nlm.nih.gov] Dent Hypotheses 2017;8:39-41 Introduction Frenulae in the oral cavity include the frenulum linguae, frenulae labii, and buccal frenulae.[dentalhypotheses.com]

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