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151 Possible Causes for Cerebellar Hypoplasia, Osteoporosis, Stiffness of the Lower Limbs

  • Ankylosing Spondylitis

    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] Asymmetric arthritis of other joints, predominantly of the lower limbs, can be present at any stage of the disease.[doi.org] Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus[dentisty.org]

  • Neonatal Adrenoleukodystrophy

    Osteoporosis and fractures can occur in patients who are less mobile.[orpha.net] Symptoms may include progressive stiffness, weakness, or paralysis of the lower limbs and loss of coordination. Brain function deterioration may also been seen.[medical-dictionary.thefreedictionary.com] […] atrophy and hypoplasia of the corpus callosum (HCAHC).[rarediseases.org]

  • Parastremmatic Dwarfism

    […] inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis[csbg.cnb.csic.es] Disease definition A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.[orpha.net] hypoplasia and distinctive facial appearance ORC1 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome[genda.com.ar]

  • Bruck Syndrome

    The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures.[ncbi.nlm.nih.gov] Lower limb  Hip  Mostly flexion, abduction, and external rotation contractures of varying degrees of severity.  Unilateral or bilateral hip dislocation is observed in approximately[slideshare.net] Catecholaminergic polymorphic ventricular tachycar Caveolinopathy CDK9 SYNDROME Central core myopathy Cerebellar hypoplasia Charcot Marie Tooh 2A Charcot Marie Tooh X-linked[igenomix.us]

  • Osteogenesis Imperfecta Type 3

    Current research activities include: heart disease in adult osteogenesis imperfecta, the effect of nutrition on bone growth in osteogenesis imperfecta, osteoporosis in Rett[books.google.ro] He experienced difficulty walking downstairs and complained of stiffness in his lower limbs accompanied by some numbness, more marked in the right leg.[jnnp.bmj.com] The Resource Center is operated by the National Osteoporosis Foundation, in collaboration with the Paget Foundation and the Osteogenesis Imperfecta Foundation. 11/99[oif.org]

  • Habrodysplasia

    The information obtained from studying this disease will have far reaching implications for the treatment of common disorders such as fractures, osteoporosis, hip replacement[joshuasfop.com] He was gradually progressing into a stiff neck and shoulders. He had no lower limb involvement; the child is still active and playing. Parents are concerned and anxious.[omicsonline.org] One patient shows cerebral cavernous malformations, and another patient has cerebellar hypoplasia.[karger.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    […] syndrome, Bertini type 7 Cases 85336 X-linked neurodegenerative syndrome, Hamel type 10 Cases 314978 X-linked non progressive cerebellar ataxia 3 Families 391330 X-linked osteoporosis[azkurs.org] […] the small muscles of the hand, weakness and sometimes stiffness in the muscles of the back, shoulders and limbs.[tankonyvtar.hu] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org]

  • Osteogenesis Imperfecta Type 13

    OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both[malacards.org] He experienced difficulty walking downstairs and complained of stiffness in his lower limbs accompanied by some numbness, more marked in the right leg.[jnnp.bmj.com] He has been carrying out laboratory and clinical studies in the field of osteoporosis and bone metabolism for over 40 years.[books.google.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    […] organic acid metabolism Disorder of other vitamins and cofactors metabolism and transport Distal myopathy, Nonaka type Dominant hypophosphatemia with nephrolithiasis or osteoporosis[sanfordresearch.org] People with Dandy–Walker malformation may experience muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures.[en.wikipedia.org] Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[rarediseases.info.nih.gov]

  • Reiter's Syndrome

    It can have a very similar appearance to psoriatic arthritis with the classic features of ill-defined erosions, enthesopathy, bone proliferation, early juxta-articular osteoporosis[radiopaedia.org] ; duration at least 3 months synovitis - past or present asymmetric arthritis or arthritis predominantly in lower limbs must have 1 of: positive family history - any of the[enotes.tripod.com] Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential[rarediseases.org]

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