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1,519 Possible Causes for Congenital Eye Anomaly, Coronal Cleft of Vertebrae, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    cleft vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism[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 Ptosis[rarediseases.info.nih.gov] Phenotypes Abnormality of femoral epiphysis ; Anterior bowing of long bones ; Autosomal recessive inheritance ; Blepharophimosis ; Cataract ; Congenital hip dislocation ; Coronal[mousephenotype.org]

  • Congenital Cataract

    The vertebrae may have coronal clefts and scoliosis often develops. Generalized metaphyseal dysplasia and delayed bone age are usually present.[disorders.eyes.arizona.edu] We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[ukgtn.nhs.uk]

  • Hallermann-Streiff Syndrome

    nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov] He had an unusually small body, “… a prominent nose, depressed nasal root, high-arched palate, low-set ears, and small mouth…”(Erciyes 130).[hallermann-streiff-awareness.weebly.com]

    Missing: Coronal Cleft of Vertebrae
  • Velocardiofacial Syndrome

    Vertebral anomalies include hemivertebra, butterfly vertebrae, and coronal clefts. Supernumerary or absent ribs occur in 20 percent of affected individuals.[clinicaladvisor.com] Congenital heart defects or diseases.[syndromepictures.com] Of 63 individuals on whom chest films were examined, 19% had vertebral anomalies including butterfly vertebrae, hemivertebrae, and coronal clefts; 19% had rib anomalies, most[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Distichiasis Constrictive median neuropathy Mitochondrial myopathy Coronal cleft vertebrae Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Blepharospasm Abnormal[mendelian.co] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Choroid Hemangioma

    anomaly whereby the eye is shorter than normal, develops a cataract, and may present with whitening of the pupil.[murraymd.com] Parents can observe the red reflex can be seen by dimming the room lights and using a flashlight to shine light directly into the child's eyes.[murraymd.com] […] a rare cancer, some pediatricians may fail to detect it early enough or sometimes mistakenly diagnose it as: Persistent hyperplastic primary vitreous (PHPV): an unusual congenital[murraymd.com]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Ectopia Lentis

    Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11[genome.jp] Abstract Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects.[ncbi.nlm.nih.gov] Intraocular tension was within normal limits in both eyes. General examination did not reveal any congenital anomalies of any system.[ijo.in]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Chudley-Rozdilsky Syndrome

    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] […] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus[personalizedcause.com] […] multiplex congenita Congenital mumps Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular dystrophy Congenital muscular dystrophy[elbiruniblogspotcom.blogspot.com]

    Missing: Coronal Cleft of Vertebrae
  • Hydrophthalmos

    Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Inclusion term(s): Congenital anomaly of[icd10coded.com] Axenfeld anomaly Axenfelds anomaly Axenfelds anomaly (eye condition) Bilateral congenital glaucoma Buphthalmos of left eye Buphthalmos of right eye Glaucoma of childhood[icd10data.com] Nephrotic syndrome ocular anomalies 0 *Eye Abnormalities *Nephrotic Syndrome/congenital. FACES syndrome 0 *Anorexia *Cachexia *Eye Abnormalities *Skin Diseases *Facies.[reference.md]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root
  • Frontonasal Dysplasia

    Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases.[ncbi.nlm.nih.gov] Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and[ncbi.nlm.nih.gov] Introduction Frontonasal dysplasia, also known as median cleft syndrome, frontonasal syndrome and frontonasal dysostosis, is a rare congenital anomaly affecting the eyes,[ncbi.nlm.nih.gov]

    Missing: Coronal Cleft of Vertebrae Prominent High Nasal Root