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19 Possible Causes for Anteverted Nostril, Buccal Frenulae, Hearing Impairment

  • Pallister-Hall Syndrome

    impairment Underdeveloped or improperly developed genitals Gastrointestinal defects, abnormal kidney function Reduced growth of head size and body length Severe mental retardation[dovemed.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

    Showing of 29 80%-99% of people have these symptoms Branchial anomaly 0009794 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Downslanted[rarediseases.info.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]

  • Smith Lemli Opitz Syndrome

    It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[icd10data.com] 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]

  • Saethre-Chotzen Syndrome

    Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing[mlpa.com] 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Related symptoms: Global developmental delay Hearing impairment Scoliosis Muscular hypotonia High palate SOURCES: ORPHANET More info about FRIED SYNDROME Medium match PROLIFERATIVE[mendelian.co] 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 Mandibulofacial Dysostosis with Ptosis

    Stickler syndrome Hearing impairment Treacher Collins-Franceschetti syndrome Hearing impairment Usher syndrome Hearing impairment Waardenburg syndrome Hearing impairment[genomediagnosticsnijmegen.nl] 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

    impairment DIGEORGE SYNDROME( VELO CARDIO-FACIAL) SYNDROME Hypoplasia or agenesis of the thymus Hypoplasia/ Agenesis of parathyroid glands Hypoplasia of auricle and external[paediatricks.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]

  • Pallister W Syndrome

    Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts and supernumerary nipples.[en.wikipedia.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]

  • Crandall Syndrome

    impairment Sparse body hair Frequently present symptoms in 30-79% of the cases: Fine hair (Source: Crandall Syndrome; Genetic and Rare Diseases Information Center (GARD )[dovemed.com] His facial appearance was characterized by a round face, broad nasal bridge, and stubby nose with anteverted nostrils, widow’s peak hair anomaly, fleshy ear lobes, higher[jstage.jst.go.jp] [Hereditary abnormality of the buccal mucosa: abnormal bands and frenula]. Revue Stomatol. 1954 Apr;55(4):209-27. Undetermined Language. (3.)[aprendeenlinea.udea.edu.co]

  • Autosomal Dominant Prognathism

    hearing impairment Flexion contracture Depressed nasal bridge Posteriorly rotated ears Myopia Intellectual disability, mild Malar flattening Ridged nail Positional foot deformity[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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