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Leukoencephalopathy - Metaphyseal Chondrodysplasia Syndrome

Leukoencephalopathy with Metaphyseal Chondrodysplasia


  • He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present).[books.google.de]
  • Abstract Background: The authors report a three-generation family with four male patients presenting with a novel type of X-chromosomal leukoencephalopathy associated with skeletal abnormalities.[neurology.org]
  • Presentation Blood levels of parathryoid hormone (PTH) are undetectable, but the mutation in the PTHR1 leads to auto-activation of the signaling as though the hormone PTH was not present. Severe JMC produces a dwarfing phenotype , or short stature.[checkrare.com]
  • The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata.[ncbi.nlm.nih.gov]
  • Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.[bioportfolio.com]
Muscle Weakness
  • Type Epiphyseal Dysplasia, Multiple, with Miniepiphyses Epiphyseal Dysplasia, Multiple, with Myopathy Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia Episodic Muscle[rgd.mcw.edu]
  • weakness, atrial fibrilation, hypertriglyceridaemia LMNA Muscular dystrophy, limb girdle LMNA Hutchinson-Gilford progeria syndrome LMNA Cardiomyopathy, dilated, with conduction defect, type 1A LMNA Cardiomyopathy, dilated, with conduction defect, type[springer.com]
Enlargement of the Wrists
  • […] of the wrists 60 33 frequent (33%) Frequent (79-30%) HP:0003020 16 morphological abnormality of the pyramidal tract 60 33 frequent (33%) Frequent (79-30%) HP:0002062 17 large knee 60 33 frequent (33%) Frequent (79-30%) HP:0030866 18 abnormality of the[malacards.org]
  • Cerebroretinal Microangiopathy with Calcifications and Cysts CHILD Syndrome chondrodysplasia Blomstrand type Chondrodysplasia Calcificans Metaphysealis chondrodysplasia punctata Chondrodysplasia with Joint Dislocations, GPAPP Type Chondrodysplasia with Platyspondyly[rgd.mcw.edu]
Behavior Disorder
  • Disorders X-Linked Hydrocephalus X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein X-Linked Modifier for Neurofunctional Defects X-linked recessive disease X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections,[rgd.mcw.edu]
  • disorders syndrome X-linked hypophosphatemia X-linked intellectual disability due to GRIA3 mutations X-linked intellectual disability with isolated growth hormone deficiency X-linked intellectual disability with marfanoid habitus X-linked intellectual[se-atlas.de]
  • ) Very frequent (99-80%) HP:0005871 2 leukoencephalopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002352 3 intellectual disability 60 33 frequent (33%) Frequent (79-30%) HP:0001249 4 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337 5 hyperreflexia[malacards.org]
  • […] of the cerebral white matter Acrania Hepatosplenomegaly Depressed nasal bridge Spastic hemiparesis Retinal telangiectasia Exudative retinopathy Decreased pulmonary function Postural tremor Kinetic tremor Hypertelorism Motor delay Muscular hypotonia Hyperreflexia[mendelian.co]
Babinski Sign
  • sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487 9 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083 10 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258 11 abnormal brainstem mri signal intensity 60 33 frequent ([malacards.org]
Babinski Sign
  • sign 60 33 frequent (33%) Frequent (79-30%) HP:0003487 9 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083 10 spastic paraplegia 60 33 frequent (33%) Frequent (79-30%) HP:0001258 11 abnormal brainstem mri signal intensity 60 33 frequent ([malacards.org]
Fine Tremor


Brain Edema
  • EDEMA AND/OR LEUKOENCEPHALOPATHY Progressive Hearing Loss Stapes Fixation Progressive Leukoencephalopathy, with Ovarian Failure progressive multifocal leukoencephalopathy Progressive Muscular Dystrophy, Pectorodorsal progressive pseudorheumatoid arthropathy[rgd.mcw.edu]


  • Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • Treatment There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates .[checkrare.com]
  • Treatment of cartilage-hair hypoplasia with recombinant human growth hormone.[ncbi.nlm.nih.gov]
  • […] of asthma; pharmaceutical preparations for the treatment of cancer; pharmaceutical preparations for the treatment or prevention of viral diseases, namely, AIDS, Condyloma acuminata, hollow warts, Dengue fever, three-day fever, Ebola virus, cold, early[ic.gc.ca]


  • In the past 15 years major steps have been made from visual analysis to quantitative analysis, from planar imaging to tomographic imaging, from detection of disease to prognosis, and from separate evaluations of perfusion, metabolism, and function to[books.google.es]
  • Part I: symptomatology and long-term prognosis. 2000 Atypical benign partial epilepsy/pseudo-Lennox syndrome. Inheritance of photosensitivity.[univis.uni-kiel.de]
  • Non-Hodgkin lymphoma often has a poor prognosis with conventional cytotoxic protocols [ Taskinen et al 2008 ]. Endocrine. Pubertal maturation may be delayed and may require hormonal induction.[ncbi.nlm.nih.gov]


  • […] leukoencephalopathy without megalencephaly Synonym(s): (no synonyms) Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. J Med Genet. 1992; 29 :652–5. [ PMC free article : PMC1016098 ] [ PubMed : 1404295 ] Mäkitie O, Kaitila I.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution


  • Human Press, Totowa, NJ, S 237–274 Google Scholar Chattopadhyay N, Mithal A, Brown EM (1996) The calcium-sensing receptor: a window into the physiology and pathophysiology of mineral ion metabolism.[link.springer.com]
  • In rare instances autoimmune complications and a form of severe allergic reaction have been observed in CHH; however, the pathophysiology is still unknown [ Bacchetta et al 2009, Narra & Shearer 2009 ].[ncbi.nlm.nih.gov]


  • This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time.[books.google.de]
  • To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break.[medlineplus.gov]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ Página 275 - Newsholme EA. The glucose fatty-acid cycle.[books.google.es]

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