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441 Possible Causes for Blue Sclera, Ehlers Danlos Syndrome

  • Osteoporosis

    To further characterize the significance of the mutation we studied his mother who is 30 year old with blue sclera and history of backache but no fractures.[ncbi.nlm.nih.gov] […] thalassemia, leukemia, lymphoma, hemophilia , sickle cell disease , systemic mastocytosis Genetic disorders - Cystic fibrosis , osteogenesis imperfecta , homocystinuria , Ehlers-Danlos[web.archive.org] Individuals with OI present with varying degrees of fracture, blue sclerae, dentinogenesis imperfecta, ligament laxity, and hearing impairment. [10] Bone biopsy shows decreased[emedicine.com]

  • Brittle Cornea Syndrome

    Abstract A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family.[ncbi.nlm.nih.gov] Phenotypically, the disorder bears a certain resemblance to fragilitas oculi and the type VI (ocular) form of the Ehlers-Danlos syndrome, two conditions which are, themselves[ncbi.nlm.nih.gov] Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).[bjo.bmj.com]

  • Brittle Cornea Syndrome 2

    Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).[bjo.bmj.com] Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.[zora.uzh.ch] TYPE EHLERS-DANLOS SYNDROME, CLASSIC-LIKE EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE[ghr.nlm.nih.gov]

  • Dermatosparaxis

    He subsequently exhibited marked skin fragility, blue sclerae, joint laxity, increased bruisability, and growth retardation.[ncbi.nlm.nih.gov] Acronym EDSDERMS Synonyms Dermatosparaxis EDS7C EDS VIIC Ehlers-Danlos syndrome, type VII, autosomal recessive Ehlers-Danlos syndrome 7C Keywords Any medical or genetic information[uniprot.org] Conclusions: The newly recognized phenotype of Ehlers-Danlos VII-C is a distinct connective tissue disorder characterized by marked skin fragility and laxity, blue sclerae[jamanetwork.com]

  • Musculocontractural Ehlers-Danlos Syndrome Type 2

    Syndrome Inguinal hernia Brachycephaly Downslanted palpebral fissures Telecanthus Arachnodactyly Patent foramen ovale Nervous System Disorders Congenital eye abnormality Blue[familydiagnosis.com] Syndrome distal arthrogryposis Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency Ehlers-Danlos syndrome progeroid type Ehlers-Danlos Syndrome Type 4 Ehlers-Danlos Syndrome[rgd.mcw.edu] Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB[ukgtn.nhs.uk]

  • Ehlers-Danlos Syndrome, Type 6

    Like EDS patients and EDS-K patients in particular, they may also have blue sclerae, joint hypermobility, hyperelastic skin, and hearing loss.[forgottendiseases.org] Causes - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Prevention - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis Diagnosis - Ehlers-Danlos syndrome - type VIa -[checkorphan.org] […] onset than that in other types. 2 Recently, Ehlers-Danlos syndrome has not been considered a contraindication for orthopedic surgery, Ehlers-Danlos syndrome patients with[healio.com]

  • Musculocontractural Ehlers-Danlos Syndrome

    […] in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal recessive inheritance 0000007 Blue[rarediseases.info.nih.gov] Syndrome distal arthrogryposis Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency Ehlers-Danlos syndrome progeroid type Ehlers-Danlos Syndrome Type 4 Ehlers-Danlos Syndrome[rgd.mcw.edu] Entry H02246 Disease Name Ehlers-Danlos syndrome musculocontractural type Supergrp Ehlers-Danlos syndrome [DS: H00802 ] Description Ehlers-Danlos syndrome musculocontractural[kegg.jp]

  • Loeys Dietz Syndrome Type 1

    Disease spectrum and associated features include: Craniofacial hypertelorism cleft palate bifid uvula craniosynostosis malar hypoplasia blue sclerae Chiari I malformation[radiopaedia.org] The Ehlers-Danlos syndromes, rare types.[annalscts.com] sclerae.[cancertherapyadvisor.com]

  • Ehlers Danlos Syndrome Classic Type

    Symptoms INHERITANCE: Autosomal dominant GROWTH: [Height]; Short stature HEAD AND NECK: [Face]; Narrow maxilla; [Ears]; Hypermobile; Lop ears; [Eyes]; Myopia; Blue sclerae[findzebra.com] It comprises Ehlers-Danlos syndrome type I and Ehlers-Danlos syndrome type II, but it is now apparent that these form a continuum of clinical findings and differ only in phenotypic[ncbi.nlm.nih.gov] Epicanthic folds, microcornea, blue sclera, ectopia lentis and angioid streaks have also been associated, though less commonly [ 4 , 5 ].[link.springer.com]

  • Ehlers-Danlos Syndrome, Type 8

    Brittle Cornea Syndrome 1 Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility Dysgenesis Mesodermalis Corneae Et Sclerae Ehlers-Danlos Syndrome, Type VIB[ukgtn.nhs.uk] Ehlers-Danlos syndrome is a condition that affects connective tissue --- particularly, collagen.[forgottendiseases.org] sclerae, small jaw, hypertrichosis Dominant COL1A1, COL1A2 Arthrochalasia, type VII A/B (Exon 6 COL1A1/2 ) Dermatosparaxis Type (EDS type VIIC) Soft and very thin, fragile[uwcpdx.org]

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