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14 Possible Causes for Cataract, Heart Valve Disease, Prominent High Nasal Root

  • Noonan Syndrome

    He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] Most babies with Noonan syndrome are also born with heart disease.[webmd.com] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com]

  • Malpuech Syndrome

    […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.com] disease with dysplasia of the pulmonary and aortic valves and endocardial fibrosis. 50 A patent foramen ovale and patent ductus arteriosus were present in three cases 26,[jmg.bmj.com] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov]

  • Nemaline Myopathy 1

    Type V Boylan Dew Greco Syndrome Bruck syndrome Camptodactyly-Ichthyosis Syndrome CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement Cataract[rgd.mcw.edu] Concept for neurology heart disease: valve disease, aneurysm, coronary artery disease, cardiac arrhythmia, heart failture, cardiomyopathy and pericarditis Myopathy word cloud[shutterstock.com] nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.[panelapp.genomicsengland.co.uk]

  • Wolf Hirschhorn Syndrome

    […] palpebral fissures Epicanthal folds Strabismus Coloboma Proptosis due to hypoplasia of orbital ridges Ectopic pupils Exotropia Ptosis Microphthalmia Megalocornea Sclerocornea Cataracts[emedicine.medscape.com] In addition to congenital heart disease, other anomalies included dysplastic kidneys, renal hypoplasia, diaphragmatic hernia, and pulmonary hypoplasia.[doi.org] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com]

  • Autosomal Dominant Myopia 22

    This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement[books.google.com] […] frontal bossing, thick eyebrows, prominent nasal root and tip high arched palate, micrognathia, smooth and silky skin, especially at the trunk, elastic skin at the knees,[omicsonline.org] Cardiac [ 7 ] Most children with NS have congenital heart disease with the frequency estimated to be between 50% and 90% in various studies.[patient.info]

  • Congenital Disorder of Glycosylation Type 1Q

    Both of our patients have severe visual impairment, optic atrophy, and cataracts.[bmcmedgenet.biomedcentral.com] […] bridge ; Prominent, high and nasal root; Tubular nose; [Mouth]; Thin upper lip; Drooling; [Teeth]; Crowded teeth ABDOMEN: [Gastrointestinal]; Chewing abnormalities GENITOURINARY[findzebra.com] Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral More information Hemorrhagic disease of the newborn Hemorrhagic disease of the newborn A[docplayer.net]

  • Trisomy 18p

    Some affected infants also have clouding of the normally transparent front regions of the eyes (corneas); loss of transparency of the lenses (cataracts); absence or defects[rarediseases.org] She was noted to have dysmorphic features (prominent occiput, high-arched palate, short nose with anteverted nares, orbital hypertelorism, depressed nasal root, low set ears[synapse.koreamed.org] Polivalvular heart disease (characterized by the involvement of two or more atrioventricular and/or semilunar valves) is considered by some authors as a characteristic finding[scielo.br]

  • Pancreatic Insufficiency - Anemia - Hyperostosis Syndrome

    ] CRYGC P07315 non-pleiotropic Cataract 2, multiple types (CTRCT2) [MIM: 604307 ] CRYGD P07320 non-pleiotropic Cataract 4, multiple types (CTRCT4) [MIM: 115700 ] CRYGS P22914[sbg.bio.ic.ac.uk] Heart Septal Defects, Atrial Heart Septal Defects, Ventricular Heart Valve Diseases Heart Valve Prolapse Heartburn Heartwater Disease Heat Exhaustion Heat Stress Disorders[medgene.med.harvard.edu] Symptoms are prominent frontoparietal bones, flat nasal root, short upturned nose, high forehead with ridging of the metopic and sagittal sutures, and lateral frontal prominences[ncbi.nlm.nih.gov]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    These clinically characteristic cataractous lenses are small and discoid.[emedicine.medscape.com] Uhl's disease pulmonary Q22.3 ICD-10-CM Diagnosis Code Q22.3 Other congenital malformations of pulmonary valve 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable[icd10data.com] […] mortality Straight eyebrows, broad/flat nasal root/bridge, pointed chin, microbrachycephaly, deep set eyes, midface hypoplasia, long philtrum Cardiomyopathy, ebstein's anomaly[quizlet.com]

  • Hypertelorism and Tetralogy of Fallot

    Anomalies of optic disk, optic nerve, retina, or eye (colobomas, cataracts) 3. Preauricular tags, low-set ears 4. Conductive deafness 5. Mental deficiency (8-20%) a.[fetalultrasound.com] Congenital heart disease occurs in 50%-80% of individuals.[rasopathiesnet.org] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com]

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