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248 Possible Causes for Absent Renal Peroxisomes, Brushfield Spot

  • Zellweger Syndrome

    Since electronmicroscopic studies have shown that peroxisomes are absent in liver and kidney of patients with the cerebro-hepato-renal syndrome, our results suggest that an[] We did not observe any Brushfield spots, any renal and brain cysts, or adrenal insufficiency.[] Clinical Features [ edit ] Craniofacial Features Flat occiput and face Anteverted nares Epicanthal folds Brushfield spots High forehead Large fontanels Shallow orbits Ocular[]

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[] Results: Ocular findings included nystagmus (29.2%), esotropia (26.1%), epiphora (21.5%), Brushfield spots (16.9%), lens opacities (12.3%), abnormalities of the retinal vessels[] These spots occur in normal children but are far more frequent in Down's syndrome (trisomy 21).[]

    Missing: Absent Renal Peroxisomes
  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[] […] palpebral fissures, chorioretinal dystrophy, myopia, decreased visual acuity, optic atrophy Down syndrome (190685) Upslanting palpebral fissures, epicanthal folds, iris Brushfield[]

    Missing: Absent Renal Peroxisomes
  • High Myopia-Sensorineural Deafness Syndrome

    Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[] Ocular features include Brushfield's spots (small white spots on the periphery of the iris which are found sometimes in unaffected children).[]

    Missing: Absent Renal Peroxisomes
  • Spastic Paraparesis-Deafness Syndrome

    ) spots overlying the iris of the eye.[] Eye problems associated with this syndrome are myopia and "Brushfield" spots (gray or pale yellow spots at the periphery of the iris).[] […] short stature, a small rounded head flattened posteriorly, broadening of the neck, slanting eyes, a flattened nose, small broad hands with a single palmar crease and white (Brushfield[]

    Missing: Absent Renal Peroxisomes
  • Glassblower's Cataract

    spots[] (75%)- often symmetrical and develop in late childhood: varied morphology b. chronic blepharitis, myopia, strabismus, keratoconus, anomalous optic disc vasculature, iris Brushfield[]

    Missing: Absent Renal Peroxisomes
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[] Will see epicanthal folds, simian crease, brushfield spots in eyes.[] The pupils may have light smudgy opaque Brushfield spots.[]

    Missing: Absent Renal Peroxisomes
  • Fitzsimmons-McLachlan-Gilbert Syndrome

    spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, simian crease, congenital cataracts, and some intellectual disabilities.[] Langdon Down Syndrome In our body, the Downs Syndrome clinical manifestations include; hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, brushfield[]

    Missing: Absent Renal Peroxisomes
  • Craniosynostosis Type 3

    Ring of iris speckles - Brushfield's spots. Ears set low, folded or stenotic meatus. Flat nasal bridge. Mouth: Protruding tongue (small narrow palate).[]

    Missing: Absent Renal Peroxisomes
  • Congenital Mandibular Hypoplasia

    spots), 3 fontanelles with delayed closure, midface hypoplasia, mild microcephaly, short hard palate, small nose with flat nasal bridge, protruding tongue MSK - short metacarpals[] […] with clinodactyly - Single transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield[]

    Missing: Absent Renal Peroxisomes

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