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484 Possible Causes for Cold-Induced Muscle Cramps, Mutation in the Collagen III Alpha 1 Polypeptide Gene, Skin Hyperelasticity

  • 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] Hyperelasticity of the skin and hypermobility of the joints are moderate in this phenotype.[cda-adc.ca]

    Missing: Cold-Induced Muscle Cramps
  • 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] Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Muscular hypotonia Low or weak muscle tone 0001252 Myalgia Muscle ache Muscle pain [ more ] 0003326[rarediseases.info.nih.gov]

    Missing: Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • 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] Ehlers-Danlos syndrome EDS are a group of disorders that affect connective tissue disorders and share common features characterized by skin hyperelasticity or laxity, abnormal[bcidaho.com] […] wall of large artery that carries blood away from heart 0002647 Craniosynostosis 0001363 Fatigue Tired Tiredness [ more ] 0012378 Femoral hernia 0100541 Hyperextensible skin[rarediseases.info.nih.gov]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • 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] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] […] 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 Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Ehlers-Danlos Syndrome Hypermobility Type

    […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] […] 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] Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fragility with bleeding diathesis 1.[radiopaedia.org]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Ehlers-Danlos Syndrom Classic Type 2

    […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com] […] 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] Clinically manifests by skin hyperelasticity and fragility, joint hypermobility and blood vessel fragility with bleeding diathesis 1.[radiopaedia.org]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Renal Coloboma Syndrome

    Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ] 0000974 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Intellectual disability[rarediseases.info.nih.gov] […] not available through HPO Arnold-Chiari type I malformation 0007099 Autosomal dominant inheritance 0000006 Chorioretinal atrophy 0000533 Gliosis 0002171 Hyperextensible skin[rarediseases.info.nih.gov]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Ehlers-Danlos Syndrome

    Causes skin fragility, easy bruising, skin hyperelasticity, joint hypermobility and scarring.[gillettechildrens.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] […] that stretches easily (skin hyperelasticity or laxity), and weakness of tissues.[medicinenet.com]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Hypogonadism

    Phenotypic abnormalities include hyperelasticity of the skin, hypertelorism, ptosis, low-set ears, short stature, shortened 4th metacarpals, high-arched palate, and primarily[msdmanuals.com]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene
  • Purpura

    hyperelasticity and joint hypermobility suggest Ehlers-Danlos syndrome Lymphadenopathy Splenomegaly Stigmata of cirrhosis 3.[clinicaladvisor.com] […] suggests rickettsial infection Palpable purpura suggest vasculitis (but is not pathognomonic) Bleeding around hair follices and “corkscrew hairs” suggest vitamin C deficiency Skin[clinicaladvisor.com] Ehlers-Danlos syndrome, a group of genetically heterogenous connective tissue disorders, is characterized by skin hyperelasticity, joint hypermobility and fragility of the[aafp.org]

    Missing: Cold-Induced Muscle Cramps Mutation in the Collagen III Alpha 1 Polypeptide Gene

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