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177 Possible Causes for Rhizomelic Shortening, Short Stature

  • X-Linked Dominant Chondrodysplasia Type Chassaing-Lacombe

    stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death[csbg.cnb.csic.es] See %309585 Hypogonadism, gynecomastia, short stature, obesity 98 [35] Young-Hughes Short stature, obesity, hypogonadism References for Table S1: [1] Guerrini R, Shanahan[dentisty.org] Related documents Proportionate Short stature Using and interpreting the CDC Growth Charts An approach to short stature The Common Genet Short Men, Short Shrift Growing in[studylib.net]

  • Achondroplasia

    BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[ncbi.nlm.nih.gov] The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic."[ncbi.nlm.nih.gov] shortening of the limbs.[ncbi.nlm.nih.gov]

  • Chondrodysplasia Punctata

    In addition, subtle follicular atrophoderma, esotropia, craniofacial asymmetry and short stature were noted.[ncbi.nlm.nih.gov] Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[ncbi.nlm.nih.gov] A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short[ncbi.nlm.nih.gov]

  • Rhizomelic Chondrodysplasia Punctata Type 1

    Dwarfism / Short Stature (Skeletal Dysplasias, Achondroplasia, Jeune Syndrome [Asphyxiating Thoracic Dystrophy], multiple exostoses, hormonal short stature, Cartilage-hair[kumc.edu] AB - Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones.[jhu.pure.elsevier.com] stature/skeletal dysplasia (98.0% **) WES skin disorders* (98.0% **) ** % of the coding region of this gene has a coverage of 20x.[order.radboudumc.nl]

  • Spondyloepimetaphyseal Dysplasia Type Missouri

    […] micromelia - Short stature / dwarfism / nanism Occasional - Restricted joint mobility / joint stiffness / ankylosis[csbg.cnb.csic.es] There is rhizomelic shortening in patient IV.8.[semanticscholar.org] Spondyloepimetaphyseal dysplasia Missouri type: A bone disease characterized by moderate to severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening[malacards.org]

  • Pseudoachondroplasia

    We examined an Inuit boy with PSACH and severe short stature.[ncbi.nlm.nih.gov] As the growth rate slows, the trunk appears long with lumbar lordosis and rhizomelic shortening of the limbs. Final adult height is 80-130cm.[web.archive.org] shortening of the extremities is evident; - dwarfism can easily be differentiated from achondroplasia by the normal face and skull, and the absence of interpedicular narrowing[wheelessonline.com]

  • Hypochondroplasia

    Abstract Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature.[ncbi.nlm.nih.gov] Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs.[ncbi.nlm.nih.gov] Hypochondroplasia is characterized by a disproportionate short stature with rhizomelic shortening of the limbs.[ncbi.nlm.nih.gov]

  • Rhizomelic Chondrodysplasia Punctata

    A form of dwarfism (skeletal dysplasia) A result on inefficient enzyme activity Can be caused by a mutation in the PEX7, GNPAT, AGPS gene Affects fewer than 1 in 100,000 Diagnosis[littlepeopleuk.org] Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[ncbi.nlm.nih.gov] Abstract Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disease characterized clinically by a disproportionately short stature primarily affecting the[ncbi.nlm.nih.gov]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    A form of dwarfism (skeletal dysplasia) A result on inefficient enzyme activity Can be caused by a mutation in the PEX7, GNPAT, AGPS gene Affects fewer than 1 in 100,000 Diagnosis[littlepeopleuk.org] […] chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[karger.com] Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities[diseaseinfosearch.org]

  • Brachytelephalangic Chondrodysplasia Punctata

    Other features include hypoplasia of the midface and of the nasal bone, short stature, brachytelephalangy, and ectopic calcifications.[ncbi.nlm.nih.gov] There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening[medical-dictionary.thefreedictionary.com] X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts[ipfs.io]

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