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113 Possible Causes for Severely Disproportionate Short Stature, Short Stature in Children

  • 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] […] lead to short stature.[rileychildrens.org] Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] These children have short stature, with short arms and legs and short fingers.[socialstyrelsen.se] 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]

  • Familial Short Stature

    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] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Holmes CS, Karlsson JA, Thompson RG (1985) Social and school competencies in children with short stature: longitudinal patterns.[omicsonline.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] Treatment - Disproportionate short stature: Treatment with growth hormone is likely not beneficial in children with CHH.[atlasgeneticsoncology.org] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov]

  • SHOX-Related Short Stature

    short stature in one patient.[peerj.com] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Bone age is usually normal for age in children with familial short stature.[patient.info]

  • 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] Deletions of the Homeobox Gene SHOX (Short Stature Homeobox) Are an Important Cause of Growth Failure in Children with Short Stature.[brighthub.com] 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]

  • Skeletal Dysplasia

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] According to epidemiological reports, about 2% of all children in the United States have short stature.[howshealth.com] Skeletal dysplasias are a group of genetic disorders characterized by short stature. They are frequently associated with a range of orthopaedic problems.[muhealth.org]

  • Osteogenesis Imperfecta

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[checkorphan.org] stature Type IV: Bone fractures begin in infancy Children have difficulty growing and have a short stature Diagnosing osteogenesis imperfecta Diagnosing OI is usually based[shrinershospitalsforchildren.org]

  • Hypochondroplasia

    Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short[ncbi.nlm.nih.gov] In addition to the obvious limb deformities of short stature and bowing, children with achondroplasia typically have frontal bossing (prominent forehead), midface hypoplasia[paleyinstitute.org] Format Definition Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.[uniprot.org]

  • Diastrophic Dysplasia

    BACKGROUND: Diastrophic dysplasia results in severe disproportionate short stature, generalized joint deformities, and early osteoarthritis.[ncbi.nlm.nih.gov] Parents should be offered contact with other parents of children of short stature, and the children themselves should also be offered the opportunity to meet children in the[socialstyrelsen.se] Abstract Diastrophic dysplasia (DD), a congenital skeletal dysplasia, is characterized by short, disproportionate stature, multiple severe spinal and joint deformities, and[ncbi.nlm.nih.gov]

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