Create issue ticket

23 Possible Causes for Cataracts Usually Congenital, Congenital Eye Anomaly, Renal Osteodystrophy

  • Oculocerebrorenal Syndrome

    The hallmark of this disorder is the appearance of congenital bilateral cataracts (thick clouding of the lenses) that are usually deemed visually significant at birth.[news-medical.net] Hypophosphatasia, renal osteodystrophy, osteogenesis imperfecta, non-accidental trauma, Fanconi syndrome, Cole-Carpenter syndrome, Hadju-Cheney syndrome, Idiopathic juvenile[ispub.com] The classical diagnostic triad includes: Congenital cataracts Neonatal or infantile hypotonia with subsequent mental impairment Renal tubular dysfunction progressing to chronic[patient.info]

  • Hydrophthalmos

    The hallmark of this disorder is the appearance of congenital bilateral cataracts (thick clouding of the lenses) that are usually deemed visually significant at birth.[news-medical.net] Hypophosphatasia, renal osteodystrophy, osteogenesis imperfecta, non-accidental trauma, Fanconi syndrome, Cole-Carpenter syndrome, Hadju-Cheney syndrome, Idiopathic juvenile[ispub.com] 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]

  • Renal Tubular Acidosis

    Lowe's syndrome — A rare inherited disorder that is distinguished by congenital cataracts, glaucoma, and severe mental retardation.[medical-dictionary.thefreedictionary.com] The typical biochemical findings are low levels of serum calcium, low serum phosphate except in cases of renal osteodystrophy, low urinary calcium, low vitamin D concentration[sjkdt.org] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Rieger Syndrome

    Microphthalmos - small eye without normal function (eg, cataract, coloboma, congenital cyst).[patient.info] Pseudovaginal perineoscrotal hypospadias SRD5A2 Pseudoxanthoma Elasticum P092-B2, ABCC6 Pulmonale Hypertonie BMPR2 Pyruvatkinasemangel PKLR, PK Refsum-Syndrom PHYH, PEX7 Renal[meduniwien.ac.at] Q13.4 Other congenital corneal malformations Q13.8 Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations[icd10data.com]

  • Multiple Congenital Anomalies

    Physicians usually look for cataracts in Down syndrome but may not think to look for them in premature babies.[healio.com] This is occasionally seen in conditions such as osteomalacia, rickets, Paget’s disease, osteogenesis imperfecta, renal osteodystrophy, and rheumatoid arthritis [ 3 ].[pulsus.com] Ten years ago an unusual association of prenatal growth retardation, microcephaly, coloboma of the iris/eye anomalies, congenital heart defects, and urogenital anomalies was[ncbi.nlm.nih.gov]

  • Familial Congenital Nasolacrimal Duct Obstruction

    (cone-shaped cornea) Congenital cataracts Blepharitis Conjunctivitis Lacrimal duct obstruction Retinal abnormalities The following may be helpful for families: Hearing and[medicalhomeportal.org] Artery Obstruction Renal Osteodystrophy Renal Tubular Transport, Inborn Errors Reoviridae Infections Reperfusion Injury Respiration Disorders Respiratory Distress Syndrome[medgene.med.harvard.edu] WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe[mendelian.co]

  • Optic Atrophy-Intellectual Disability Syndrome

    Dislocated lens (usually superiorly and nasally) Severe refractive errors Megalocornea (front third of the eye is larger than normal) Cataracts Uveal colobomas Secondary glaucoma[tsbvi.edu] Osteodystrophy LD 2.06-Language Dyscalculia Issue # 46 - Disorders in this issue: HI 7.00- Vestibular Schwannoma (Acoustic Neuroma) HI 7.01 Bilateral Vestibular Schwannomas[naset.org] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Leber Congenital Amaurosis

    Electroretinogram (ERG) responses are usually nonrecordable.[ncbi.nlm.nih.gov] They are characterized by salt wasting nephropathy, anaemia, progressive renal failure, and growth retardation. [8] Our patient had severe renal osteodystrophy related to[ijo.in] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Autosomal Dominant Larsen Syndrome

    Congenital dislocation of the knees with unilateral cataract and unilateral undescended testis was present in a newborn male ...[ibis-birthdefects.org] It may lead to renal insufficiency which manifests as failure to thrive, renal osteodystrophy, anemia, polyuria, polydipsia, hyponatremia and metabolic acidosis.[lecturio.com] (Congenital With Brain And Eye Anomalies), Type A, 2 3 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 3 Muscular dystrophy-dystroglycanopathy[preventiongenetics.com]

  • Seckel Syndrome

    Congenital cataracts or other structural anomalies of the eye may be present.[ncbi.nlm.nih.gov] [from muscle, liver, brain, and eyes] renal n. infantile renal osteodystrophy. symptomatic n. dwarfism with defects in bone, dentition, and sexual development.[theodora.com] Pseudovaginal perineoscrotal hypospadias SRD5A2 Pseudoxanthoma Elasticum P092-B2, ABCC6 Pulmonale Hypertonie BMPR2 Pyruvatkinasemangel PKLR, PK Refsum-Syndrom PHYH, PEX7 Renal[meduniwien.ac.at]