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39 Possible Causes for Cataract, Prominent High Nasal Root, Vertebral Abnormalities

  • 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] […] of the vertebral column Abnormal spine Abnormal vertebral column Abnormality of the spine [ more ] 0000925 Amegakaryocytic thrombocytopenia 0004859 Atrial septal defect An[rarediseases.info.nih.gov] 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]

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] […] the long bones to scoliosis, platyspondyly, and deficient ossification centers or coronal clefts in anterior vertebral bodies ( 13 ).[ajnr.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov]

  • Qazi-Markouizos Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] […] of toe Pointed chin Sparse eyebrow Proptosis Abnormal vertebral morphology Esotropia Finger syndactyly Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep[mendelian.co] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts[rgd.mcw.edu] abnormalities[pediatricneurosurgerygroup.net] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co]

  • Renpenning Syndrome

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome Vici syndrome Warburg syndrome Weaver Williams syndrome[icdlist.com] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract[howlingpixel.com] , OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I , TAYBI-LINDER SYNDROME; TALS Classification bone, developmental, eye, genetic, neurological Phenotypes 11 pairs of ribs ; Abnormality[mousephenotype.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal[rarediseases.info.nih.gov]

  • Baller-Gerold Syndrome

    Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventive efforts, and cataracts.[howlingpixel.com] […] heart morphology Abnormality of the heart Abnormally shaped heart [ more ] 0001627 Abnormal vertebral morphology 0003468 Abnormality of cardiovascular system morphology 0030680[rarediseases.info.nih.gov] abnormalities.[jmg.bmj.com]

  • X-Linked Mandibulofacial Dysostosis

    Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] Another disease which belongs to this spectrum is Goldenhar syndrome, which includes vertebral abnormalities, epibulbar dermoids and facial deformities. [32] Treatment [ edit[en.wikipedia.org] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov]

  • Malpuech Syndrome

    […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.com] Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities .[pesquisa.bvs.br] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov]

  • Rigid Spine Syndrome

    The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle[centogene.com] […] blood and blood-forming tissues Pathologic fracture Colon cancer Acute kidney injury Neoplasm of the pancreas Amyloidosis Elevated serum creatinine Spinal cord compression Vertebral[mendelian.co] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov]

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