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15 Possible Causes for Mutation in the RMRP Gene, Severely Disproportionate Short Stature

  • Anauxetic Dysplasia

    Abstract Mutations in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis[ncbi.nlm.nih.gov] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] […] in the RMRP gene lead to a wide spectrum of autosomal recessive skeletal dysplasias, ranging from the milder phenotypes metaphyseal dysplasia without hypotrichosis and cartilage[plu.mx]

  • Cartilage Hair Hypoplasia

    Mutation analysis identified a novel homozygous mutation, g.-19_-25 dupACTACTC, in the promoter region of the RMRP gene.[ncbi.nlm.nih.gov] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene[ncbi.nlm.nih.gov]

  • Metaphyseal Chondrodysplasia Type Kaitila

    PubMed ID: 14284412 Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I. (2003) The Major Mutation in the RMRP Gene Causing CHH among the Amish is the Same as That Found[biochemgenetics.ca] At 28 yr she had severe, disproportionately short stature with short limbs and mild obesity (Fig. 2).[documents.tips] The RMRP gene was identified as the disease causing gene in CHH [3,4]. We report two patients with CHH caused by the two novel RMRP mutations c.94_96dupAGT and c.99C T.[indianpediatrics.net]

  • Schmid Metaphyseal Chondrodysplasia

    In patients with MCDS but no mutation in COL10A1, screening for mutations in the RMRP gene is recommended.[jmg.bmj.com] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com] No mutations were detected in RMRP, the gene for cartilage-hair hypoplasia that has phenotypic overlap with SMCD. Copyright 2004 Wiley-Liss, Inc.[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    We ordered a direct RMRP gene test that revealed 2 heterozygous mutations (g.96_97dupTG, maternal; g.-25-11 dupACTACTCTGTGAAGC). The father did not cooperate ( Fig. 1 ).[analesdepediatria.org] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co] Gene Human Gene Mutation Database (HGMD) RMRP SNPedia medical, phenotypic, and genealogical associations of SNPs for RMRP SNP Genotyping and Copy Number Assay Products No[genecards.org]

  • Metaphyseal Chondrodysplasia, Spahr Type

    RMRP ) gene.[rarediseases.org] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au] Nevertheless, as carpal abnormal-ities had been reported in CHH and found in thepresent family, and because of the marked clinicalheterogeneity found in those with RMRP mutations[docslide.net]

  • Congenital Scoliosis due to Bony Malformation

    Defects in processing and metabolism of RNA and DNA This group is justified mainly by the peculiarities of RMRP gene (encoding the RNA-RNase MRP) whose mutation results in[zdoc.site] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] Defects in DNA and RNA processing and metabolism RMRP gene (codifies RNA part of MRP-RNAase): cartilage-hair hypoplasia the bone surface), where acidification is a prerequisite[zdoc.site]

  • Dyschondrosteosis-Nephritis Syndrome

    Cartilage-hair hypoplasia (CHH, McKusick type) is one of four skeletal dysplasias with mutations in the RMRP gene (9p21-p13) ( 368, 369 ).[basicmedicalkey.com] It often goes unrecognized in childhood and is diagnosed in adult life when disproportionate short stature becomes obvious [ 87 ].[intechopen.com] mutation in which the hypertrophic zone was hypercellular with minimal matrix extending into the metaphysis ( 367 ).[basicmedicalkey.com]

  • Ulna Metaphyseal Dysplasia Syndrome

    Genes involved and Proteins Note CHH is mainly caused by mutations in the RMRP gene, but a Uniparental Disomy of 9p13 has been reported as well in one CHH patient.[atlasgeneticsoncology.org] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au] The clinical picture is that of a mild achondroplasia and is represented by disproportionate short stature with short limbs but without an obvious rhizomelia, brachydactyly[intechopen.com]

  • Kyphomelic Dysplasia

    Responsible for this disease is a mutation in the RNase MRP RNA gene (RMRP), a non-coding RNA gene.[en.wikipedia.org] […] and wide illiac wings with horizontal acetabular roofs, platyspondyly and a narrow thorax, clinically manifesting with severe, disproportionate short stature.[orpha.net] […] form of disproportionate short-limb short stature.[en.wikipedia.org]

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