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176 Possible Causes for Gonadal Mosaicism May Occur, Severely Disproportionate Short Stature

  • Pseudoachondroplasia

    Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Definition A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower[uniprot.org]

  • Anauxetic Dysplasia

    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] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov] Disproportionate short-limb short stature is the hallmark finding and is usually recognized in the newborn and occasionally prenatally.[ncbi.nlm.nih.gov]

    Missing: Gonadal Mosaicism May Occur
  • Osteogenesis Imperfecta

    Sibling recurrence without an affected parent may occur due to gonadal mosaicism for heterozygous dominant mutations in one of the parents [Byers and Cole, 2002 ].[onlinelibrary.wiley.com] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] stature.[doi.org]

  • Mesomelic Dysplasia Type Langer

    From Wikidata Jump to navigation Jump to search Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening[wikidata.org] Moreover, the clinical phenotype of SHOX mutations varies strongly and may range from severe disproportionate short stature to mild short stature with or without anomalies[medical-genetics.de] Langer mesomelic dysplasia ( LMD ) is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature.[en.wikipedia.org]

    Missing: Gonadal Mosaicism May Occur
  • Rhizomelic Chondrodysplasia Punctata Type 1

    In some cases of Conradi-Hünermann syndrome, where there is no apparent family history, the disorder may occur due to gonadal mosaicism.[rarediseases.org] Rhizomelic chondrodysplasia punctata type 1 ( RCDP1 ; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic[ctgt.net] […] limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures.[ctgt.net]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    In some cases of Conradi-Hünermann syndrome, where there is no apparent family history, the disorder may occur due to gonadal mosaicism.[rarediseases.org] Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening,[ctgt.net] RCDP types II and III are characterized by variable severity of clinical manifestations and by disproportionately short stature that primarily affects the proximal parts of[emedicine.medscape.com]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    In some cases of Conradi-Hünermann syndrome, where there is no apparent family history, the disorder may occur due to gonadal mosaicism.[rarediseases.org] Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening,[ctgt.net] […] congenital cataracts, distinct facial features, severe intellectual disability, and seizures.[ctgt.net]

  • Chondrodysplasia Punctata

    In some cases of Conradi-Hünermann syndrome, where there is no apparent family history, the disorder may occur due to gonadal mosaicism.[rarediseases.org] Rhizomelic Chondrodysplasia Punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[dnatesting.uchicago.edu] , congenital contractures, characteristic ocular involvement, severe intellectual disability and spasticity.[dnatesting.uchicago.edu]

  • Growth Failure

    A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

    Missing: Gonadal Mosaicism May Occur
  • Spondyloepimetaphyseal Dysplasia Type Shohat

    disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly[orpha.net] […] portal for information on rare diseases and orphan drugs.Orpha Number: 93352Disease definitionSpondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely[malacards.org] Orpha Number: 93352 Disease definition Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature , short limbs, small[rarediseases.info.nih.gov]

    Missing: Gonadal Mosaicism May Occur

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