Create issue ticket

569 Possible Causes for Butterfly Vertebrae, Corneal Deposit

  • Hypercholesterolemia

    The attempt to relate corneal lipid deposits and vascular lipid deposits has been and remains controversial, despite continued interest[ 3, 4 ].[doi.org] He was diagnosed with pulmonary stenosis, butterfly vertebrae of T4, T6, and T8; horseshoe kidney, and embryotoxon in the left eye.[ncbi.nlm.nih.gov] […] on the skin or tendons) Xanthelasma (fat deposits on the eyelids) Corneal arcus (fat deposits around the cornea) Chest pain (angina).[ihhub.org]

  • Heterozygous Familial Hypercholesterolemia

    Physical examination may find xanthomas and xanthelasmas (skin lesions caused by cholesterol rich lipoprotein deposits), and cholesterol deposits in the eye called corneal[genome.gov] C: Xanthelasmas are cholesterol deposits in the eyelids. D: Arcus cornealis results from cholesterol infiltration around the corneal rim (arrow).[ncbi.nlm.nih.gov] Corneal arcus (cholesterol deposit around the cornea of the eye). If angina (chest pain) is present, it may be sign that heart disease is present.[genome.gov]

    Missing: Butterfly Vertebrae
  • Familial Hypercholesterolemia

    […] in the eye (corneal arcus).[nlm.nih.gov] Cholesterol deposition in nonvascular tissue is common, although heterozygous children do not usually have physical manifestations; adults do not invariably develop them.[emedicine.com] […] trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance A physical exam may show fatty skin growths called xanthomas and cholesterol deposits[nlm.nih.gov]

    Missing: Butterfly Vertebrae
  • Fabry Disease

    deposits.[patient.info] The signature ocular manifestation is the whorl-like corneal pattern of lipid (glycosphingolipid) deposits which are present in both hemizygous males and heterozygous females[disorders.eyes.arizona.edu] These symptoms are all due to the deposition of Gb3 in the walls of small vessels, kidney tubule and glomeular cells, nerves and dorsal root ganglia.[themedicalbiochemistrypage.org]

    Missing: Butterfly Vertebrae
  • Kyphoscoliosis

    Morquio Syndrome (MPS IVA) Clinical Characteristics Ocular Features: Corneal clouding in the form of fine deposits in the stroma is the major ocular manifestation but it may[disorders.eyes.arizona.edu] In any case, the presence of single or multiple hemivertebrae and wedge vertebrae, unilateral unsegmented bars, block vertebrae and butterfly vertebrae may be visualized.[symptoma.com] (thirty-nine patients), a posterior hemivertebra (eight patients), a butterfly vertebra (fifteen patients), and a wedged vertebra (six patients).[ncbi.nlm.nih.gov]

  • Homozygous Familial Hypercholesterolemia

    The ocular exam showed a partial circumferential (from 2 O'clock to 4 O'clock) white-grey deposit corresponding to corneal arcus.[ijo.in] […] on the skin or tendons) Xanthelasma (fat deposits on the eyelids) Corneal arcus (fat deposits around the cornea) Chest pain (angina).[ihhub.org] Physical examination may find xanthomas and xanthelasmas (skin lesions caused by cholesterol rich lipoprotein deposits), and cholesterol deposits in the eye called corneal[genome.gov]

    Missing: Butterfly Vertebrae
  • Acrorenal Mandibular Syndrome

    vertebrae abnormal sacral segmentation Skeletal Hands: split hand syndactyly Chest Ribs Sternum Clavicles And Scapulae: missing ribs hypoplastic scapulae irregular, thin[malacards.org] vertebrae Hydrosalpinx Choanal stenosis Scaphocephaly Flexion contractures (upper limb) Tibial shortening (unilateral) Broadened sacral vertebra –, features are absent/not[docksci.com] vertebrae Congenital diaphragmatic hernia Downslanted palpebral fissures Finger syndactyly Hemivertebrae Hypoplastic scapulae Kyphosis Narrow face Oral cleft Scoliosis Short[dovemed.com]

    Missing: Corneal Deposit
  • Cystinosis

    Cystine crystal deposition can be seen in the bone marrow earlier than corneal deposition, in patients with NC.[ncbi.nlm.nih.gov] An 8-year-old boy with nephropathic cystinosis was experiencing debilitating and worsening photophobia from corneal crystal deposition.[ncbi.nlm.nih.gov] Topical cysteamine eye drops are also needed as systemic cysteamine has no effect on cystine corneal deposits.[orpha.net]

    Missing: Butterfly Vertebrae
  • Aicardi's Syndrome

    […] or block vertebrae hemivertebrae abnormal costovertebral articulation History and etymology First described in 1961 by Jean Francois Marie Aicardi, (1926-2015) French neuropaediatrician[radiopaedia.org] […] extra-axial: 8% ocular microphthalmia coloboma chorioretinopathy chorioretinal lacunae eyelid twitching absent pupillary reflexes funnel-shaped disks spine scoliosis spina bifida butterfly[radiopaedia.org]

    Missing: Corneal Deposit
  • Alagille Syndrome

    Three-dimensional imaging demonstrated classic butterfly vertebrae, which were not otherwise appreciable.[ncbi.nlm.nih.gov] The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon.[ncbi.nlm.nih.gov] vertebrae.[ncbi.nlm.nih.gov]

    Missing: Corneal Deposit

Further symptoms