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118 Possible Causes for Cerebellar Hypoplasia, Conduction Disorder of the Heart, Osteoporosis

  • Ankylosing Spondylitis

    disorders and valvular heart disease.[ncbi.nlm.nih.gov] After AS diagnosis, a higher proportion of patients developed newly diagnosed cases of cardiovascular diseases, depression, osteoporosis, spinal fracture, IBD, psoriasis,[ncbi.nlm.nih.gov] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    […] murmur Bipolar affective disorder Conductive hearing impairment Retinal dysplasia Abnormality of the eyelashes Natal tooth Autoimmune thrombocytopenia Reticulocytopenia Pancreatic[mendelian.co] There are no life-threatening causes of osteoporosis . However, complications resulting from untreated osteoporosis are common.[wikidoc.org] hypoplasia Epiphyseal dysplasia Familial expansile osteolysis Finding of arrangement of skeletal muscle Hereditary acrosteolysis Hypochondrogenesis Hypochondroplasia Idiopathic[emedcodes.com]

  • Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome

    Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.[abcam.com] Hypogonadism, osteoporosis, osteosclerosis of digits, and dilated cardiomyopathy were described.[gepedia.com] hypoplasia, retinitis pigmentosa Fanconi anemia 17 FANCA, FACA, FA1, FA, FAA Anemia, leucopenia, thrombocytopenia; cardiac, renal and limb malformations; dermal pigment changes[endocrine.gr]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Cardiomyopathy, dilated 1A: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.[ab-y-ss.com] Osteoporosis Screening and Management A loss of estrogen at menopause is the leading cause of osteoporosis in women.[froedtert.com] Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: D-CHRAMPS syndrome.[jpma.org.pk]

  • Nelson Syndrome

    Many patients exhibited neurobehavioural problems, such as autism spectrum disorder or hyperactivity. One-third of patients presented with (conductive) hearing loss.[kbgfoundation.com] , truncal–central obesity, weight gain–water retention, moon face, weakness, fatigue, backache, headache, thirst, urination, DM, osteoporosis Lab Hypersecretion of cortisol[medical-dictionary.thefreedictionary.com] hypoplasia of unknown origin.[neuronalsignaling.org]

  • Hyperdibasic Aminoaciduria Type 1

    […] block Heart enlargement see Cardiomegaly Heart failure see Cardiac failure, low output Heart failure, left sided see Cardiac failure, left sided Heart murmur see Abnormal[diseaselist.blogspot.com] Clinical findings in LPI patients include: vomiting, diarrhea, failure to thrive, hepatosplenomegaly, bone marrow abnormalities, osteoporosis, episodes of coma, mental retardation[humpath.com] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[checkrare.com]

  • Muscular Dystrophy

    The progression of the disorder is slow. Heart defects including conduction abnormalities and dilated cardiomyopathy may occur.[rarediseases.org] Osteoporosis People with DMD may develop 'thinning' of the bones (osteoporosis). This is due to lack of mobility and also to steroid treatment.[web.archive.org] MRI findings include pontine and cerebellar hypoplasia, although 4 patients had no abnormalities. Muscle biopsy showed reduced a-dystroglycan glycosylation.[emedicine.medscape.com]

  • Autosomal Dominant Mental Retardation Type 21

    Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy,[rgd.mcw.edu] DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome cerebellar hypoplasia, vldlr-associated non-progressive[mendelian.co] Short stature, cataracts, hypotonia, aminoaciduria, progressive renal disease Signal transduction, lipid metabolism GK Glycerol kinase deficiency Short stature, spasticity, osteoporosis[intechopen.com]

  • Acrootoocular Syndrome

    ., echocardiograms, electrocardio-grams, cardiac catheterization, specialized x-ray studies, etc.) may be conducted to detect and/or confirm the presence of congenital heart[rarediseases.org] Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of[books.google.de] And Mental Retardation, Autosomal Recessive Cerebellar Hypoplasia, VLDLR-Associated Dysequilibrium Syndrome CAMRQ1 DES 224050 Genetic Test Registry Cerebrooculofacioskeletal[ukgtn.nhs.uk]

  • Craniodiaphyseal Dysplasia

    Oligodontia-colorectal cancer syndrome Atrial fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers[amp.pharm.mssm.edu] Imbalance will lead to conditions such as osteoporosis or hyperostosis. Osteoblasts build bone, becoming embedded in bone matrix as mature osteocytes.[ncbi.nlm.nih.gov] […] with malformations Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar[checkrare.com]

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