Create issue ticket

477 Possible Causes for Ectopia Lentis, Genu Valgum

  • Homocystinuria

    KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan[ncbi.nlm.nih.gov] Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis.[orpha.net] Although patients with homocystinuria may present to the orthopaedic surgeon with osteoporosis, severe genu valgum or scoliosis, the disease is an uncommon cause of these[online.boneandjoint.org.uk]

  • Marfan Syndrome

    We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye.[ncbi.nlm.nih.gov] A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus.[doi.org] The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    Lentis Kozlowski Tsuruta Taki Syndrome Langer Mesomelic Dysplasia Laplane Fontaine Lagardere Syndrome Larsen Syndromes Leri-Weill dyschondrosteosis Lethal Chondrodysplasia[rgd.mcw.edu] valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance[mendelian.co] lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar]

  • Schwartz-Lelek Syndrome

    lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar] Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles.[en.wikipedia.org] Affected people are clinically normal, apart from genu valgum , although scoliosis and bone fragility occasionally occur.[merckmanuals.com]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar] valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence.[ncbi.nlm.nih.gov] The clinical findings in DEEC are: Disproportionate dwarfisms (with short spine, kyphoscoliosis, pectus carinatus), genu valgum, etc.[roderic.uv.es]

  • Dyggve-Melchior-Clausen Syndrome

    (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] The patients have a striking "barrel-shape" chest, shortened trunk, and various distal deformities, including genu valgum or varum, and minimal decrease in joint mobility.[ncbi.nlm.nih.gov] Skeletal abnormalities may include barrel-shaped chest with a short trunk, partial dislocation of the hips, genu valgum (knocked knees) or varum (bowed legs), and decreased[definition-of.com]

  • Tollner-Horst-Manzke Syndrome

    lentis Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome Blue rubber bleb nevus syndrome BOD syndrome Bohring-Opitz syndrome Bone dysplasia Azouz[rarediseases.info.nih.gov] valgum Tel Hashomer camptodactyly syndrome Telfer Sugar Jaeger syndrome Temple syndrome Temple-Baraitser syndrome Temporal epilepsy, familial Temtamy preaxial brachydactyly[rarediseases.info.nih.gov] lentis Isolated growth hormone deficiency type 1A Isolated growth hormone deficiency type 1B Isolated growth hormone deficiency type 2 Isolated growth hormone deficiency[rarediseases.info.nih.gov]

  • Platyspondyly

    lentis Overfolded helix Abnormality of the urinary system Elbow dislocation Apnea Myalgia Macroglossia Shield chest Anterior beaking of lumbar vertebrae Angiokeratoma corporis[mendelian.co] […] dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian type Related symptoms: Autosomal dominant inheritance Short stature Myopia Severe short stature[mendelian.co] lentis MedGen UID: 343394 • Concept ID: C1855606 • Disease or Syndrome Hall Riggs mental retardation syndrome MedGen UID: 341089 • Concept ID: C1856198 • Disease or Syndrome[ncbi.nlm.nih.gov]

  • Thoracomelic Dysplasia

    LENTIS 245180 : KIFAFA SEIZURE DISORDER 245190 : KNIEST-LIKE DYSPLASIA, LETHAL 245210 : KOUSSEFF SYNDROME 245300 : KURU 245340 : LACTATE TRANSPORTER DEFECT, MYOPATHY DUE[www5.geometry.net] valgum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002857 11 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042 12 hyperlordosis 59 32 hallmark[malacards.org] valgum Knock knees 0002857 Hyperlordosis Prominent swayback 0003307 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Limb undergrowth limb shortening[rarediseases.info.nih.gov]

  • Parastremmatic Dwarfism

    lentis and with or without secondary glaucoma, Weill-Marchesani syndrome MATN3 Multiple epiphyseal dysplasia type 5 (EDM5), Spondyloepimetaphyseal dysplasia Matrilin type[genda.com.ar] The term originates from the Latin genu, "knee", and valgum, "bowlegged". [1] Mild genu valgum is relatively common in children up to two years of age, and is often corrected[wikidoc.org] lentis, familial (EL) FBN1 del Ectopia lentis, isolated, autosomal dominant FBN1 del Ectopia pupillae PAX6 del Ectrodactyly, autosomal recessive WNT10B Ectrodactyly, ectodermal[uniklinik-freiburg.de]

Further symptoms

Similar symptoms