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688 Possible Causes for Cataract, Enamel Hypoplasia, Xeroderma

  • Hypoparathyroidism

    Abstract Cataract is a cardinal manifestation of hypoparathyroidism.[ncbi.nlm.nih.gov] Dental enamel hypoplasia. Genetic syndromes: Sensorineural deafness. Renal dysplasia. General learning disability.[patient.info] Enamel hypoplasia of teeth is also common, and appears to be unrelated to hypoparathyroidism (21).[hypopara.org]

  • Cockayne Syndrome

    To describe cataracts in classic and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov] hypoplasia.[ncbi.nlm.nih.gov] […] whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma[ncbi.nlm.nih.gov]

  • Tricho-Retino-Dento-Digital Syndrome

    Nails Hair Hair: pili canaliculi uncombable hair pili trianguli Genitourinary External Genitalia Male: hypospadias Skeletal Feet: brachydactyly Head And Neck Eyes: juvenile cataract[malacards.org] Hereditary enamel hypoplasia, its association with characteristic hair structure. Pediatrics 37: 498-502, 1966. [PubMed: 5906373] [Full Text: ] Seow, W. K.[omim.org] […] hypohidrotic dysplasia Tricho retino dento digital syndrome Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Trichodermodysplasia dental alterations Trichodysplasia xeroderma[mindmappedia.com]

  • Ichthyosis Vulgaris

    PLATANUS OCCIDENTALIS 30 —Platanus occidentalis is prescribed for X linked ichthyosis with corneal opacity and cataract.[ks-gopi.blogspot.com] There are reports in literature of patients with high risk caries, gingivitis, periodontitis, and enamel hypoplasia, and delayed eruption of the teeth, irregular morphology[omicsonline.org]

  • Hallermann-Streiff Syndrome

    To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report.[ncbi.nlm.nih.gov] hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the[orpha.net] Pigmentosum Society Welcome To Children Of The Moon (Xeroderma pigmentosum) 先天性魚鱗癬 Ichthyosis Information 低フォスファターゼ症 低フォスファターゼ症の会 ロウ症候群 (Lowe syndrome) Lowe Syndrome Association[e-shosai.com]

  • Ichthyosis

    In a third in which the mother had cataracts and ichthyosis, two of her female children had cataracts.[disorders.eyes.arizona.edu] Oral and dental findings reported in itchthyosis patients included gingivitis, periodontitis, enamel hypoplasia, high caries incidence, delayed primary and secondary eruption[ijpd.in] Ichthyosis, also called fish-skin disease, or xeroderma, a hereditary condition involving dryness and scaliness of the skin brought about by excessive growth of the horny[britannica.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    The ectodermal traits are clearly seen as trichodysplasia, onychodysplasia, skin manifestations, and nuclear cataract.[docslide.com.br] Enamel hypoplasia is a part of this disorder.[jiaomr.in] […] pigmentosum, group A XPA Xeroderma pigmentosum, group C XPC Xeroderma pigmentosum, group D ERCC2 Xeroderma pigmentosum, group E, DDB-negative subtype DDB2 Xeroderma pigmentosum[centogene.com]

  • Bloch Sulzberger Syndrome

    […] retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract[ncbi.nlm.nih.gov] Convert to ICD-10-CM : 757.33 converts approximately to: 2015/16 ICD-10-CM Q82.1 Xeroderma pigmentosum Or: 2015/16 ICD-10-CM Q82.2 Mastocytosis Approximate Synonyms Anomaly[icd9data.com] Cataracts are common in patients who have a retinal detachment and some patients have microphthalmia.[disorders.eyes.arizona.edu]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy[ncbi.nlm.nih.gov] hypoplasia.[ojrd.biomedcentral.com] Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy[ncbi.nlm.nih.gov]

  • Oculo-Osteo-Cutaneous Syndrome

    […] thin eyelashes thin hair Skeletal Skull: hypoplastic maxilla Skeletal Hands: short fingers short metacarpals (3rd-5th) Skin Nails Hair Skin: albinoidism Head And Neck Eyes: cataract[malacards.org] 1 Aarskog syndrome ablepharon macrostomia syndrome Abuse Dwarfism Syndrome achondroplasia acromesomelic dysplasia ADULT syndrome Alaninuria with Microcephaly, Dwarfism, Enamel[rgd.mcw.edu] […] syndrome, Dihydrotestosterone receptor deficiency 300068 Tooth and nail syndrome Dysplasia of nails with hypodontia 189500 Trichodental dysplasia 601453 Trichodysplasia-xeroderma[keratin.com]

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