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18 Possible Causes for Anteverted Nostril, Buccal Frenulae, Hydrocephalus

  • Pallister-Hall Syndrome

    Box 721 Waddell, AZ 85355 Email: admin@hopeforhh.org Website: Hydrocephalus Association 4340 East West Highway Ste 950 Bethesda, MD 20814 USA Phone: (301) 202-3811 Toll-free[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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    Congenital hydrocephalus can present as an isolated phenomenon which is common; or with associated anomalies affecting other organs, disturbing physiology or presenting as[cags.org.ae] 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]

  • Smith Lemli Opitz Syndrome

    Fragile X-Syndrome Friedrichsche Ataxia G : Glass bone Disease H : Haemangioma Hemiplegia Heart deficiencies Holoprosencephaly Hearing problems Hurler-Syndrome Hurler syndrome Hydrocephalus[dolphin-therapy.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] 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

    He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] have been added to the chapters on metabolic disorders, brain injuries, congenital malformations of the brain and skull, cerebellar disorders, brain tumors, phakomatoses, hydrocephalus[books.google.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]

  • X-Linked Mandibulofacial Dysostosis

    […] dysostosis with microcephaly Marden-Walker syndrome Martsolf syndrome McLeod syndrome with or without chronic granulomatous disease Megalencephaly-polymicrogyria-polydactyly-hydrocephalus[qlinics.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

    Cranial surgery has been necessary for some patients to relieve the papilledema but the post operative outcome can be complicated by hydrocephalus.[disorders.eyes.arizona.edu] 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

    […] dislocation Cataract X-linked inheritance Heterogeneous Hypertrichosis Macrotia Striae distensae Abnormality of skin pigmentation Megalencephaly Long foot Communicating hydrocephalus[mendelian.co] 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]

  • Simpson Dysmorphia Syndrome

    Hydrocephalus, epilepsy, and attention deficit hyperactivity disorder may also be present [ Tenorio et al 2014 ].[ncbi.nlm.nih.gov] […] 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 condition include extra fingers and/or toes; imperforate anus (no external opening from the lower intestine); abnormal flow of cerebrospinal fluid in the brain causing hydrocephalus[geneticalliance.org.au] 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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