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1,057 Possible Causes for Ehlers Danlos Syndrome, Fragile X Syndrome

  • Osteoporosis

    […] thalassemia, leukemia, lymphoma, hemophilia , sickle cell disease , systemic mastocytosis Genetic disorders - Cystic fibrosis , osteogenesis imperfecta , homocystinuria , Ehlers-Danlos[] INTRODUCTION: Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive[] ., Ehlers-Danlos syndrome, vascular type or Ehlers-Danlos syndrome, periodontal type VIII [ OMIM ]) or associated with neutropenia (e.g., ELANE -related neutropenia ).[]

  • Mitral Valve Prolapse

    MVP may also occur in patients suffering from connective tissue disorders like Marfan's syndrome and Ehlers Danlos syndrome.[] Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. ‎[] Muscle disorders Duchenne muscular dystrophy, fragile X syndrome , mucopolysaccharidoses, and myotonic dystrophy may lead to the development of MVP.[]

  • Hyperextensible Joints

    Learn more about the different types of Ehlers-Danlos Syndrome . How is an Ehlers-Danlos Syndrome diagnosed?[] , trisomy 21 & fragile-x syndrome.[] Fragile X Syndrome Reference: Coffee, Bradford et al. "Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA."[]

  • Marfan Syndrome

    Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.[] Differential diagnosis [ 9 ] Ehlers-Danlos syndrome . Fragile X syndrome . Gigantism and acromegaly . Hyperpituitarism. Hyperthyroidism . Klinefelter's syndrome .[] Differential diagnosis [ 9 ] Ehlers-Danlos syndrome. Fragile X syndrome. Gigantism and acromegaly. Hyperpituitarism. Hyperthyroidism. Klinefelter's syndrome.[]

  • Renpenning Syndrome 1

    […] imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 COL3A1 Ehlers-Danlos syndrome COL5A1 Ehlers-Danlos syndrome[] Description Fragile X syndrome is also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome. It is the most common form of inherited mental retardation.[] Ehlers-Danlos Syndrome (EDS) Ellis–Van Creveld Syndrome Emanuel Syndrome Embryology: A Special Topic Embryopathies: A Special Topic Emery-Dreifuss Muscular Dystrophy (EDMD[]

  • Ehlers-Danlos Syndrome Type 2

    Prognosis - Ehlers-Danlos syndrome type 2 Not supplied. Treatment - Ehlers-Danlos syndrome type 2 Not supplied. Resources - Ehlers-Danlos syndrome type 2 Not supplied.[] […] disease Autism Hypertrophic Cardiomyopathy Fragile X syndrome Leber hereditary optic neuropathy (LHON) Fibromyalgia Limb-girdle muscular dystrophy Myotonic dystrophy Huntington[] Fragile X Syndrome Not commonly confused with EDS, but does share some characteristics similar to EDS such as joint laxity and EDS-like skin abnormalities.[]

  • Ehlers-Danlos Syndrome Type 4

    Ehlers-Danlos syndrome.[] Fragile X Syndrome Not commonly confused with EDS, but does share some characteristics similar to EDS such as joint laxity and EDS-like skin abnormalities.[] Cutis laxa, x-linked Disorder of copper metabolism Distal arthrogryposis syndrome Ehlers-Danlos and osteogenesis imperfecta syndrome Ehlers-Danlos syndrome Ehlers-Danlos[]

  • Ehlers-Danlos Syndrome with Periventricular Heterotopia

    TY - JOUR T1 - Ehlers-Danlos syndrome with subependymal periventricular heterotopias.[] […] with periventricular heterotopia ORPHA 211 493 HP:0007165 HP:0007165 Periventricular gray matter heterotopia 0 FMR1 2332 300624 Fragile X syndrome C0016667 OMIM 81 30 HP:[] Invitae does not offer diagnostic testing for fragile X syndrome at this time. STAT panels are not customizable in order to support the accelerated turnaround time.[]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome Ehlers-Danlos syndrome, musculocontractural[] [View Abstract on OvidInsights] Ligsay A, Hagerman RJ... 759.83 Fragile X syndrome Q99.2 Fragile X chromosome 613003 fragile X syndrome (disorder) Q: Why is it called “fragile[] […] with fragile-X syndrome.[]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    […] type 1 COL3A1 Ehlers-Danlos syndrome COL5A1 Ehlers-Danlos syndrome COL5A2 Ehlers-Danlos syndrome COL9A1 Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive[] OBJECTIVES To review the efficacy and safety of folic acid in the treatment of people with fragile X syndrome.[] ADAMTS2 Ehlers-Danlos syndrome CBS Homocystinuria due to cystathionine beta-synthase deficiency COL1A1 Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type[]

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