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1,592 Possible Causes for Congenital Eye Anomaly, Flexion Contractures of the Toes, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability ; Joint contracture[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] Blepharophimosis ; Cataract ; Congenital hip dislocation ; Coronal cleft vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion[mousephenotype.org]

  • 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: Flexion Contractures of the Toes
  • Congenital Cataract

    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]

    Missing: Flexion Contractures of the Toes
  • Congenital Exophthalmos

    Affected individuals may also have unusually long, thin fingers and toes (digits) with permanent flexion of one or more digits (camptodactyly), malformations of the feet ([rarediseases.org] The other common diseases were congenital eye anomalies and congenital glaucoma, with 7 (14.[freethesaurus.com] Congenital Disorders Kittens can develop a number of congenital ocular anomalies shortly after birth.[pets.thenest.com]

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

    contracture of toe Shoulder flexion contracture Abnormal facial shape Renal insufficiency Pectus excavatum Joint contracture of the hand Dental malocclusion Cachexia Narrow[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]

  • Noonan Syndrome

    Manifestations of CFC syndrome included pes planovalgus (n 20), knee flexion contractures (n 7), hip dysplasia (n 5), elbow flexion contractures (n 4), pedal calluses (n 4[ncbi.nlm.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] […] examination in infancy and/or at diagnosis — Eye reevaluation as indicated if abnormal or every two years thereafter Pregnancy Congenital heart defects, effusion, hydrops[aafp.org]

  • 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: Flexion Contractures of the Toes 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: Flexion Contractures of the Toes 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: Flexion Contractures of the Toes
  • 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: Flexion Contractures of the Toes Prominent High Nasal Root