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541 Possible Causes for Bilateral Clinodactyly, Bilateral Posterior Subcapsular Cataracts, Urine Hyaluronic Acid Increased

  • Ruijs Aalfs Syndrome

    In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus[ncbi.nlm.nih.gov] He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    […] striatal necrosis Familial isolated clinodactyly of fingers Familial lambdoid synostosis Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial[se-atlas.de] One brother was diagnosed with bilateral posterior subcapsular cataracts at age 11.[omim.org] […] hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial infantile bilateral[se-atlas.de]

    Missing: Urine Hyaluronic Acid Increased
  • Posterior Subcapsular Cataract

    Here we report a 14-yearold male of steroid induced bilateral posterior subcapsular cataract in a common variable immunodeficiency patient with damaging mutations in Glutathione[ncbi.nlm.nih.gov] Bilateral posterior subcapsular cataract was identified in one girl who had received several prolonged courses of oral corticosteroids, but was not identified in any other[ncbi.nlm.nih.gov] posterior subcapsular cataracts.[ncbi.nlm.nih.gov]

    Missing: Bilateral Clinodactyly Urine Hyaluronic Acid Increased
  • Stiff Skin Syndrome

    PROGERIA (Hutchinson-Gilford syndrome) This is an autosomal recessive syndrome where fibroblast survival time is decreased with increased production of hyaluronic acid that[drmhijazy.com] Aged 51 years, she was diagnosed with bilateral posterior subcapsular cataracts and had uncomplicated phacoemulsification and intraocular lens implantation.[ncbi.nlm.nih.gov] […] appears in urine.[drmhijazy.com]

    Missing: Bilateral Clinodactyly
  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    […] striatal necrosis Familial isolated clinodactyly of fingers Familial lambdoid synostosis Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial[se-atlas.de] Posterior subcapsular lens cataracts are also common features.[chginc.org] […] hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial infantile bilateral[se-atlas.de]

    Missing: Urine Hyaluronic Acid Increased
  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly[icd10data.com] Posterior subcapsular lens cataracts are also common features.[chginc.org] 81404 Go to top NEUROFIBROMATOSIS 2 GENE: NF2 (merlin) CHROMOSOMAL LOCATION: 22q12.2 MODE OF INHERITANCE: autosomal dominant Neurofibromatosis 2 (NF2) is characterized by bilateral[chginc.org]

    Missing: Urine Hyaluronic Acid Increased
  • Microcornea

    Hypertrichosis Pachygyria Tetraparesis Talipes equinovarus Hand polydactyly Hypoplasia of penis Nevus Hypoglycemia Camptodactyly of finger Mandibular prognathia Glaucoma Clinodactyly[mendelian.co] In all affected adults there has been progression to additional posterior subcapsular cataracts.[bjo.bmj.com] Taurodontia Downslanted palpebral fissures Retinal dysplasia Mild global developmental delay Abnormal pupil morphology Abnormal localization of kidney Peripheral axonal neuropathy Bilateral[mendelian.co]

    Missing: Urine Hyaluronic Acid Increased
  • Ehlers-Danlos Syndrome with Periventricular Heterotopia

    […] mental retardation, 5) epilepsy, 6) clinodactyly, 7) syndactyly, and 8) probable X-linked inheritance.[pediatricneurologybriefs.com] Posterior subcapsular lens cataracts are also common features.[chginc.org] Congenital abnormalities included 1) bilateral periventricular nodular heterotopia (BPNH) and ventriculomegaly, 2) cortical dysplasia, 3) cerebellar hypoplasia, 4) severe[pediatricneurologybriefs.com]

    Missing: Urine Hyaluronic Acid Increased
  • Ring Chromosome 9

    clinodactyly.[ncbi.nlm.nih.gov] […] girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral[ncbi.nlm.nih.gov]

    Missing: Bilateral Posterior Subcapsular Cataracts Urine Hyaluronic Acid Increased
  • Pelviscapular Dysplasia

    […] striatal necrosis Familial isolated clinodactyly of fingers Familial lambdoid synostosis Familial osteochondritis dissecans Familial osteodysplasia, Anderson type Familial[se-atlas.de] Postaxial polydactyly type B, unilateral Postaxial syndactyly with metacarpal synostosis Posterior column ataxia - retinitis pigmentosa Posterior polar cataract Posterior[csbg.cnb.csic.es] […] hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia type 1 Familial hypocalciuric hypercalcemia type 2 Familial hypocalciuric hypercalcemia type 3 Familial infantile bilateral[se-atlas.de]

    Missing: Urine Hyaluronic Acid Increased