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87 Possible Causes for Ectopia Lentis, Postural Defect

  • Homocystinuria

    Ectopia lentis and homocystinuria appear to have a strong correlation in Pakistani population.[ncbi.nlm.nih.gov] Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder.[ncbi.nlm.nih.gov] Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities.[ncbi.nlm.nih.gov]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos (congenital) 759.89 Mieten's 759.89 Mohr's (types I and[icd9data.com]

  • Cerebrooculofacioskeletal Syndrome Type 4

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] lentis 1, isolated, autosomal dominant (ECTOL1) [MIM: 129600 ] Stiff skin syndrome (SSKS) [MIM: 184900 ] Geleophysic dysplasia 2 (GPHYSD2) [MIM: 614185 ] Acromicric dysplasia[sbg.bio.ic.ac.uk]

  • PIBIDS Syndrome

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[news-medical.net] lentis.[superteachertools.us] (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] lentis, myopia, retinal detachment Cardiac findings: congenital heart defect, aortic root enlargement, thoracic aneurysm, aortic dissection, other aneurysms/dissections,[unmc.edu] Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Cerebellar Ataxia - Deafness - Narcolepsy

    The term ataxia includes several abnormalities of voluntary movements: static (postural) tremor may also occur may cause arm instability and defective postural fixation at[slideshare.net] Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org] LENTIS ET PUPILLAE Ectopic lens and pupil, cataract, myopia, abnormal appearing iris, increased corneal diameter, retinal detachment AR ADAMTSL4 #225200 ECTOPIA LENTIS, FAMILIAL[eyewiki.aao.org]

  • Funnel Chest

    The goal of surgery to correct a pectus excavatum defect is to improve the patient's breathing, posture and cardiac function, in addition to giving the chest a normal appearance[columbiasurgery.org] lentis) Table 2.[ncbi.nlm.nih.gov] Mild depressions are treated with exercises that strengthen the chest wall muscles and improve posture Moderate to severe depressions usually require surgery to elevate the[ghschildrens.org]

  • Van den Bosch Syndrome

    Postural unsteadiness is evident when patients begin walking.[disorders.eyes.arizona.edu] Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.aao.org] Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[disorders.eyes.arizona.edu]

  • Chronic Progressive External Ophthalmoplegia

    Besides, the patient adopts a defective head posture for proper viewing.[jemds.com] Eyes: subluxation of the ocular lens ( ectopia lentis ) after age 3, myopia and glaucoma later in life Progressive intellectual disability Psychiatric and behavioral disorders[amboss.com]

  • Short Palpebral Fissure

    The clinician must be persistent in examining abduction and adduction, and in looking for any associated palpebral fissure changes or head postures, when attempting to determine[eng.ichacha.net] lentis Cortical myoclonus Smooth philtrum Unilateral narrow palpebral fissure Growth delay Talipes equinovarus Pectus excavatum Midface retrusion Dilatation Brachycephaly[mendelian.co] […] developmental delay, ureterocele, smooth muscle hamartoma, nevus lipomatosus, Laron syndrome ( dwarfism with high growth hormone and low somatomedin activity ), and other defects[eng.ichacha.net]

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