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] It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197.[cyberleninka.org] […] ocular anomalies are both anterior and posterior chamber eye malformations and frequently lead to retinal detachment and blindness; microphthalmia, buphthalmus, optic nerves[cyberleninka.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 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]
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] & Experimental Ophthalmology, Congenital Anomalies, Congenital Heart Disease, World journal for pediatric & congenital heart surgery[imedpub.com]
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] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]
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]
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]
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]
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]
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]
Isolated and total optic disc coloboma is a markedly rare congenital anomaly of the eye.[ncbi.nlm.nih.gov] MGS is a congenital anomaly of eyes characterized with optic disc dysplasia.[dusunenadamdergisi.org] […] disc Congenital optic disc anomaly Congenital optic disc anomaly (eye condition) Congenital optic disc coloboma Left congenital optic disc anomaly (eye condition) Left congenital[icd10data.com]