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162 Possible Causes for Disproportionate Dwarfism

  • Short Rib-Polydactyly Syndrome Type Majewski

    Overview Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately[checkorphan.org] […] characterized by osteochondrodysplasia ( skeletal abnormalities in the development of bone and cartilage ) with a narrow thorax , polysyndactyly , disproportionately short[wikiwand.com] […] also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I , and short rib-polydactyly syndrome , is a lethal form of neonatal dwarfism[thefullwiki.org]

  • Ellis-Van Creveld Syndrome

    It is an autosomal recessive disorder characterized by tetrad of disproportionate dwarfism, post-axial polydactyly, ectodermal dysplasia and heart defects.[ncbi.nlm.nih.gov] Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this autosomal recessive[ncbi.nlm.nih.gov] Abstract Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short[ncbi.nlm.nih.gov]

  • Acromesomelic Dysplasia Type Maroteaux

    Mutations in the gene NPR2 have been shown to cause acromesomelic dysplasia-type Maroteaux (AMDM), an autosomal recessive skeletal disproportionate dwarfism disorder in humans[ncbi.nlm.nih.gov] dwarfism in cn/cn mouse.[link.springer.com] Mutations in the gene NPR2 have been shown to cause acromesomelic dysplasia-type Maroteaux (AMDM), an autosomal recessive skeletal disproportionate dwarfism disorder in humans.MethodsIn[scienceopen.com]

  • Spondyloepimetaphyseal Dysplasia Type Matrilin-3

    Someone with SEMD, MATN3-related will have early-onset disproportionate dwarfism. This means that they will be shorter than most other people.[diseaseinfosearch.org] […] early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones[orpha.net] Definition A bone disease characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, lumbar lordosis and normal hands.[uniprot.org]

  • Spondyloepimetaphyseal Dysplasia - Abnormal Dentition Syndrome

    There are two main categories of dwarfism -- disproportionate and proportionate.[webmd.com] - Discussion: - short trunk disproportionate dwarfism is established by age of 2 or 3 and progresses; - inherited as autosomal recessive trait; - children have normal intelligence[wheelessonline.com] Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism. Q: What types of dwarfism are there? Answer Achondroplasia .[littlepeopleoftheworld.org]

  • Spondyloepiphyseal Dysplasia Congenita

    - See: Spondyloepiphyseal Dysplasia Tarda : - Discussion: - a type of short trunk disproportionate dwarfism , in which there is involvement of the vertebra and epiphyseal[wheelessonline.com] The clinical findings in DEEC are: Disproportionate dwarfisms (with short spine, kyphoscoliosis, pectus carinatus), genu valgum, etc.[roderic.uv.es] Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral[ncbi.nlm.nih.gov]

  • Langer Mesomelic Dysplasia

    Bi-allelic mutations in SHOX cause Langer mesomelic dysplasia ( MIM 249700 ) with severe disproportionate dwarfism. « Close Genes The disorder is caused by haploinsufficiency[bioscientia-humangenetik.de] dwarfism.[journals.lww.com] 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]

  • Acromesomelic Dysplasia

    There are two main categories of dwarfism -- disproportionate and proportionate.[webmd.com] Mutations in the gene NPR2 have been shown to cause acromesomelic dysplasia-type Maroteaux (AMDM), an autosomal recessive skeletal disproportionate dwarfism disorder in humans[paperity.org] dwarfism in cn/cn mouse Tsuji, Tsuji; Kunieda, Kunieda Heterozygous mutations in natriuretic peptide receptor‐B (NPR2) gene as a cause of short stature in patients initially[deepdyve.com]

  • Achondroplasia

    There are two main categories of dwarfism -- disproportionate and proportionate.[webmd.com] It’s the most common type of disproportionate dwarfism.[healthline.com] Skeletal dysplasias are conditions of abnormal bone growth that cause disproportionate dwarfism. They include: Achondroplasia .[webmd.com]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    dwarfism.[gait.aidi.udel.edu] Disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, a small chest, and a high frequency of congenital heart defects characterize this syndrome. [1] Oral[jpbsonline.org] Disproportionate dwarfism due to chondrodysplasia of the long bones and an exceptionally long trunk.[omicsonline.org]

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