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18 Possible Causes for Anteverted Nostril, Buccal Frenulae, Nail Abnormality

  • Pallister-Hall Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.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]

  • Simpson Dysmorphia Syndrome

    […] hernia, cryptorchidism, nail dysplasia, abnormal dermatoglyphics, and sometimes mental retardation.[whonamedit.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]

  • Smith Lemli Opitz Syndrome

    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] 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] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net]

  • Curry Hall Syndrome

    Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.[checkorphan.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] Small nail MedGen UID: 537942 • Concept ID: C0263523 • Finding Nail dysplasia MedGen UID: 331737 • Concept ID: C1834405 • Congenital Abnormality The presence of developmental[ncbi.nlm.nih.gov]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal features.[en.wikipedia.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]

  • X-Linked Mandibulofacial Dysostosis

    Three affected subjects had minimal limb abnormalities (nail hypoplasia on both fifth toes and mild camptodactyly of the fourth and fifth fingers bilaterally); however, these[jmg.bmj.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 Prognathism

    Fragile nails Agenesis of permanent teeth Ovarian cyst Hypoplastic toenails Abnormality of dental morphology Polycystic ovaries Abnormality of the fingernails Abnormality[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]

  • Pallister W Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.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 Mandibulofacial Dysostosis with Ptosis

    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] Howard TD, Guttmacher AE, McKinnon W et al. (1997) Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region[els.net] 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]

  • Helsmoortel-van der Aa Syndrome

    Some associated features have been noted and include alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities. [1], [2], [3][ijdvl.com] 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]

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