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158 Possible Causes for Severely Disproportionate Short Stature

  • 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]

  • 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]

  • 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]

  • 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]

  • 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]

  • 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] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org] Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature[ncbi.nlm.nih.gov]

  • Kyphoscoliosis

    short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia[mendelian.co] Infantile encephalopathy Central hypotonia Severe muscular hypotonia Progressive microcephaly Status epilepticus Intellectual disability, profound Hypsarrhythmia Brain atrophy[mendelian.co] […] diaphyses Anasarca Calvarial hyperostosis Thrombocytosis Irritability Restlessness Cellulitis Tibial bowing Increased antibody level in blood Leukocytosis Bowing of the legs Disproportionate[mendelian.co]

  • Chondrodystrophy

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org] Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature[ncbi.nlm.nih.gov]

  • 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] stature.[doi.org] […] osteochondrodysplasias. [2], [26], [27] Patients with MED usually manifest in early-to-mid childhood with deteriorating joint pain and stiffness and tend to develop a milder form of short[doi.org]

  • Congenital Malformations of Other Endocrine Glands

    Anthropometry revealed severe, disproportionate short stature (height 95 cm, height standard deviation (SD) score - 4.5, upper segment 52 cm and lower segment 43 cm.[thetrp.net]

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