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171 Possible Causes for Cataract, Premature Graying of the Hair, Xeroderma

  • Cockayne Syndrome

    To describe cataracts in classic and early onset Cockayne syndrome (CS).[ncbi.nlm.nih.gov] Some may develop bits of gray hair, wrinkled skin or high blood pressure. Those with severe cases often live only a few years.[globalgenes.org] […] 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]

  • Rothmund Thomson Syndrome

    […] human disease Congenital poikiloderma RTS Rothmund-Thomson syndrome (disorder) ROTHMUND-THOMSON SYNDROME Poikiloderma Atrophicans and Cataract ROTHMUND-THOMSON SYNDROME; RTS[wikidata.org] graying of hair Early graying Premature graying Premature greying Premature hair graying [ more ] 0002216 Ptosis Drooping upper eyelid 0000508 Pyloric stenosis 0002021 Reduced[rarediseases.info.nih.gov] The differential diagnosis should include other causes of childhood poikiloderma and other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, xeroderma[orpha.net]

  • Werner Syndrome

    Here, we report a successful management of hypermature cataract in WS.[ncbi.nlm.nih.gov] Otto Werner A hereditary multisystem disorder characterized by premature aging, dwarfism, premature graying of the hair (canities ), alopecia, scleroderma like skin changes[whonamedit.com] XPG incision defects result in the cancer-prone syndrome xeroderma pigmentosum, whereas truncating mutations of XPG cause the severe postnatal progeroid developmental disorder[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] Other findings include craniosynostosis, blepharophimosis, glaucoma, mild prognathic mandible, Hirschsprung megacolon, premature graying of hair, anophthalmia with limb malformations[emedicine.medscape.com] […] hypohidrotic dysplasia Tricho retino dento digital syndrome Tricho-dento-osseous syndrome Tricho-hepato-enteric syndrome Trichodermodysplasia dental alterations Trichodysplasia xeroderma[mindmappedia.com]

  • Branchio-Oculo-Facial Syndrome

    […] characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract[ncbi.nlm.nih.gov] graying of the scalp hair in adolescence.[facesofchildren.org] Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with CNV Detection ( #7973 ) Xeroderma[preventiongenetics.com]

  • Hereditary Mucoepithelial Dysplasia

    A 16-year-old patient had nontender, fire-red mucosae; keratosis pilaris; diffuse, nonscarring alopecia; cataracts; photophobia; corneal vascularization; and decreased visual[ncbi.nlm.nih.gov] The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or[mendelian.co] […] and Hospital & The Tamilnadu Dr.MGR Medical University Published on Mar 14, 2017 Ectodermal Dysplasia White Sponge Nevus Hereditary Benign Intraepithelial Dyskeratiosis Xeroderma[slideshare.net]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    You are donating to research for a rare disease: ' Hypergonadotropic hypogonadism - cataract syndrome '.[react-community.org] Other variable features include dilated cardiomyopathy, premature graying of the hair, and early-onset cataracts.[mendelian.co] De Sanctis- Cacchione syndrome 0 *Dwarfism *Hypogonadism *Intellectual Disability *Xeroderma Pigmentosum.[reference.md]

  • Familial Pterygium of the Conjunctiva

    Go to website EUREQUO European Registry Funded by the ESCRS for improving quality of cataract and refractive surgery.[escrs.org] . • Other cutaneous findings may include (1) alopecia of theOther cutaneous findings may include (1) alopecia of the scalp, eyebrows, and eyelashes; (2) premature graying[de.slideshare.net] Keywords: Amniotic membrane; Multi-layer graft; Pterygium; Xeroderma pigmentosum Introduction Xeroderma pigmentosum (XP) is a rare, autosomal recessive, precancerous skin[austinpublishinggroup.com]

  • Progeria

    […] column and metacarpal joints with short stature, beaked nose and high-pitched voice, The ocular findings include: spontaneous bilateral dislocation of spherophakic mature cataracts[ncbi.nlm.nih.gov] These patients's clinical features include progeroid manifestations, such as short stature, prominent nose, premature graying of hair, partial alopecia, skin atrophy, lipodystrophy[ncbi.nlm.nih.gov] We propose that progerin accumulation results in disruption of functions of some replication and repair factors, causing the mislocalization of XPA (xeroderma pigmentosum[biochemsoctrans.org]

  • Autosomal Recessive Spastic Paraplegia Type 23

    […] persistence of fetal hemoglobin - beta-thalassemia Leber congenital amaurosis Leigh syndrome with leukodystrophy Berardinelli-Seip congenital lipodystrophy Posterior polar cataract[csbg.cnb.csic.es] SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like[ghr.nlm.nih.gov] Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with CNV Detection ( #7973 ) Xeroderma[preventiongenetics.com]

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