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1,895 Possible Causes for Cold-Induced Muscle Cramps, Kyphoscoliosis, Skin Hyperelasticity

  • Ehlers-Danlos Syndrome Classic-Like Type 1

    Cases have been reported of patient manifesting chronic widespread pain, chronic headache occurring during pregnancy, depression and/or cold-induced muscle cramps, who have[bredagenetics.com] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] ) Type (EDS type VI) Progressive kyphoscoliosis, joint hypermobility, smooth, hyperelastic and fragile skin, muscular hypotonia and scleral fragility and rupture of the globe[uwcpdx.org]

  • Ehlers-Danlos-Syndrome Type 10

    Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Hyperextensible skin Hyperelastic skin Skin hyperelasticity Stretchable skin [ more[rarediseases.info.nih.gov] Urine test: A urine test helps in identifying the kyphoscoliosis type by measuring the level of an enzyme produced by the gene associated with kyphoscoliosis type. 3.[morphopedics.wikidot.com] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Hypermobility Type

    […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.[edstoday.org] […] rarely autosomal recessive translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising COL3A1 mutation; abnormal type III collagen Kyphoscoliosis[orthobullets.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrom Classic Type 2

    […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] […] rarely autosomal recessive translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising COL3A1 mutation; abnormal type III collagen Kyphoscoliosis[orthobullets.com] Type [ edit ] Key features Neonatal onset of joint laxity Kyphoscoliosis (lateral curvature of the spine accompanying an anteroposterior hump) Muscle hypotonia Other features[en.wikibooks.org]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome

    Causes skin fragility, easy bruising, skin hyperelasticity, joint hypermobility and scarring.[gillettechildrens.org] […] develop kyphoscoliosis later in infancy.[ncbi.nlm.nih.gov] […] involvement Spontaneous joint dislocation common Dermatosparaxis Type VII C Other Type V 5% Extensive skin hyperelasticity with splitting, bruising and scarring Type VIII[dermnetnz.org]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Type 4

    hyperelasticity and joint hypermobility.[vasculardiseasemanagement.com] It is important to note that the classical manifestations of connective tissue disorders, such as joint hypermobility or skin hyperelasticity, may or may not be present in[omicsonline.org] Types include classical EDS (EDS I/II), hypermobility EDS (EDS III), vascular EDS (EDS IV), kyphoscoliosis EDS (EDS VI), arthrochalasia (EDS VIIA, B) and Dermatospraxis (EDS[pediatricfocus.wordpress.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Kyphoscoliotic Type 1

    These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. ( 9 ) References:[zfin.org] kyphoscoliosis Prognosis - Ehlers-Danlos syndrome - type VIa - kyphoscoliosis EDS is a lifelong condition.[checkorphan.org] […] involvement Spontaneous joint dislocation common Dermatosparaxis Type VII C Other Type V 5% Extensive skin hyperelasticity with splitting, bruising and scarring Type VIII[dermnetnz.org]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Musculocontractural Type 1

    Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Intestinal malrotation 0002566 Joint[rarediseases.info.nih.gov] Definition A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis[uniprot.org] In addition to progressive kyphoscoliosis, patients read more Next Generation Sequencing NGS/Del Dup Comprehensive Disease Groups: Ehlers-Danlos Syndrome and Related Disorders[ctgt.net]

    Missing: Cold-Induced Muscle Cramps
  • Arterial Tortuosity Syndrome

    Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Inguinal hernia 0000023 Joint hyperflexibility[rarediseases.info.nih.gov] […] diagnostic clues of Lateral thoracic meningoceles Additional clues to the diagnosis include rib erosion, enlargement of the adjacent neural foramen, vertebral anomalies, or kyphoscoliosis[quizlet.com] 2) Other features may include “crumpled” ears, contractures of the knees and ankles at birth with improvement over time, camptodactyly, hip contractures, and progressive kyphoscoliosis[bcidaho.com]

    Missing: Cold-Induced Muscle Cramps
  • Ehlers-Danlos Syndrome Cardiac-Valvular Type

    hyperelasticity Joint hypermobility Type V (kyphoscoliosis type EDS) X linked Skin hyperelasticity Bruising Type VIa (type 6a EDS, oculoscoliotic EDS) PLOD1 gene at 1p36.3[ganfyd.org] A diagnostic assay of urinary pyridinoline cross-links identifies the kyphoscoliosis-type EDS (type VI).[emedicine.medscape.com] Urine test: A urine test helps in identifying the kyphoscoliosis type by measuring the level of an enzyme produced by the gene associated with kyphoscoliosis type. 3.[morphopedics.wikidot.com]

    Missing: Cold-Induced Muscle Cramps

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