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12 Possible Causes for Anteverted Nostril, Blepharoptosis, Buccal Frenulae

  • Smith Lemli Opitz Syndrome

    Clinical Characteristics Ocular Features: A large number of ocular anomalies have been found in SLO syndrome but the most common is blepharoptosis of some degree.[disorders.eyes.arizona.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]

  • Pallister-Hall Syndrome

    […] and hypoplastic teeth Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Morquio syndrome Multiple malformation syndrome[icdlist.com] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.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]

  • Saethre-Chotzen Syndrome

    Her father had only blepharoptosis; this was the clue to the diagnosis, which was confirmed by finding a deletion in the TWIST gene.[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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    .) and sister (S.C.M.) had balanced t(7;9) and ptosis Edit 22 4043965 46, XY, del(7)(p15.3p21.3) craniosynostosis, brachycephaly, mental retardation, hypertelorism, left blepharoptosis[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] […] that face the top of the head (anteverted nares), malformed (dysplastic) and low-set ears, wide mouth (macrostomia), and small jaw (microretrognathia).[rarediseases.org]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    Ptosis (or blepharoptosis) is the most common anomaly of the eyelid and presents as an abnormal drooping of the upper eyelid with secondary narrowing of the vertical palpebral[childrenshospital.org] 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]

  • Autosomal Dominant Prognathism

    A mother and daughter, both of normal intelligence, presented with central forehead depression, mid-face hypoplasia, and blepharoptosis.[e-acfs.org] 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] 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]

  • Simpson Dysmorphia Syndrome

    […] lethal type Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy Popliteal pterygium syndrome Lowry Wood syndrome Jeune syndrome Blepharoptosis[checkrare.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]

  • Helsmoortel-van der Aa Syndrome

    :0011344 Severe global developmental delay1 PEX1 5189 44 Haim-Munk syndrome C1855627 ORPHA123169HP:0001263 HP:0012736 Profound global developmental delay1 PEX10 5192 912 Blepharoptosis[mseqdr.org] 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]

  • Curry Hall Syndrome

    Triangular face Karyotype results Mask-like face Inheritance status Flat mid-face Inheritance pattern Bulging forehead Parental consanguinity Full forehead Birth order Superior blepharoptosis[systematicreviewsjournal.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] 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]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] hypotonia 50% Tendon reflexes: Reduced CNS: Mental deficiency Skeletal Short stature Body asymmetry Fingers: Contractures ; Syndactyly Face: Cleft lip-palate; Retrognathia; Blepharoptosis[neuromuscular.wustl.edu] 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] 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]

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