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1,409 Possible Causes for Chondrodysplasia Punctata

  • Tracheal Calcification

    RIS @article{7e66887b2c29460f8ffd7c0f672d3d9e, title "Chondrodysplasia punctata presenting with tracheal obstruction", abstract "Chondrodysplasia punctata is a group of congenital[] Andersen PE Jr, Justesen P (1987) Chondrodysplasia punctata. Report of two cases. Skeletal Radiol 16:223–226 PubMed CrossRef Google Scholar 7.[] Chondrodysplasia punctata is a group of congenital bone and cartilage disorders characterized by erratic calcification during development.[]

  • Pseudo-Zellweger Syndrome

    The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic[] Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata ([] punctata (RCDP).[]

  • Neonatal Adrenoleukodystrophy

    , Smith-McCort dysplasia AR 21 34 EBP Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) XL 43 90 GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic[] Sources Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Rhizomelic Chondrodysplasia Punctata Rhizomelic Chondrodysplasia Punctata, Type 3 RCDP3 Tags Amber[] An additional phenotypic spectrum in PBDs is represented by rhizomelic chondrodysplasia punctata, RCDP .[]

  • Zellweger Syndrome

    A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes[] punctata.[] Group 1 is represented by a cell line from a patient with the rhizomelic form of chondrodysplasia punctata.[]

  • Mesomelic Dysplasia Type Savarirayan

    Longterm Follow-up In Chondrodysplasia Punctata, Tibia-metacarpal Type, Demonstrating Natural History نويسندگان: [ Ravi Savarirayan ] - Genetic Health Services Victoria and[] Chondrodysplasia punctata is caused by one of the following genetic mutations: arylsulfatase E gene (ARSE), X-linked dominant chondrodysplasia punctata gene (CPXD), X-linked[] Chondrodysplasia punctata, autosomal recessive ; 19. Chondrodysplasia punctata, X-linked recessive ; 20. Chondrodysplasia punctate, autosomal dominant type. ; 21.[]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    Definition/Description Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder found in infants from genetic origin.[] Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet].[] Diagnosis - Rhizomelic chondrodysplasia punctata- type 3 Not supplied. Prognosis - Rhizomelic chondrodysplasia punctata- type 3 Not supplied.[]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Definition/Description Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder found in infants from genetic origin.[] What is Rhizomelic Chondrodysplasia Punctata type 1?[] What is Rhizomelic Chondrodysplasia Punctata Type 1?[]

  • Autosomal Dominant Chondrodysplasia Punctata

    CHONDRODYSPLASIA PUNCTATA (1-3) Chondrodysplasia punctata refers to a heterogeneous group of conditions which share craniofacial dysmorphism and joint contactures and can[] Chondrodysplasia Punctata Chondrodysplasia Punctata 1, X-linked recessive Source/Author: Online Mendelian Medicine in Man (OMIM) Web-Based (medical) Medical/Scientific description[] […] dominant chondrodysplasia punctata 118650 X-linked Recessive Chondrodysplasia Punctata ...[]

  • Chondrodysplasia Punctata

    […] epiphyses and skeletal changes.Types include: Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked recessive chondrodysplasia punctata 302950 Conradi-Hünermann[] Chondrodysplasia punctata (CDP) is a term that comprises several congenital disorders with different modes of inheritance.[] […] congenita Chondrodysplasia Punctata (Stippled Epiphyses) Group CDP edit English chondrodysplasia punctata Human disease Chondrodysplasia calcificans congenita Chondrodysplasia[]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    Rhizomelic Chondrodysplasia Punctata Type 1. 2001 Nov 16 [updated 2012 Sep 13].[] Rhizomelic chondrodysplasia punctata definition of rhizomelic chondrodysplasia punctata by Medical dictionary Also found in: Acronyms, Wikipedia. rhizomelic chondrodysplasia[] Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones[]

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