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1,927 Possible Causes for Severely Short Stature

  • Laron Syndrome

    BACKGROUND/AIMS: Growth hormone insensitivity (GHI) is characterized by severe short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically[ncbi.nlm.nih.gov] short stature, high serum growth hormone (GH), low serum IGF-I and IGFBP-3 levels and is classically associated with genetic defects of the GH receptor (GHR).[doi.org] Tables: 2 ISSN: 1663-2818 (Print) eISSN: 1663-2826 (Online) For additional information: Abstract Background/Aims: Growth hormone insensitivity (GHI) is characterized by severe[doi.org]

  • Mesomelic Dysplasia Type Langer

    We present an 11-yr-old with combined TS and LMD with severe short stature and skeletal deformities.[ncbi.nlm.nih.gov] Treatment dilemmas surrounding glucocorticoid and growth hormone therapies for NCCAH in the context of severe short stature, specifically LMD, are discussed.[synergypublishers.com] The Langer Mesomelic Dysplasia (LMD; OMIM 249700), is a skeletal dysplasia characterized by severe short stature with hypoplasia/aplasia of the ulna and fibula.[ashg.org]

  • Geleophysic Dysplasia

    Geleophysic dysplasia (GD) is a rare disorder characterized by severe short stature, short hands and feet, limited joint mobility, skin thickening, characteristic facial features[ncbi.nlm.nih.gov] Our patients, harboring FBN1 mutations p.Tyr1699Cys, p.Ser1750Arg, and p.Gly1762Ser, shared common clinical symptoms such as severe short stature, acromelia and hepatomegaly[ncbi.nlm.nih.gov] Patient 2 (P2) was a US born African American female who presented at the age of 7 with severe short stature (-4 SDS).[karger.com]

  • Familial Short Stature

    Severe short stature could be traced back several generations.[ncbi.nlm.nih.gov] short stature and disturbed bone development," Mäkitie explains.[news-medical.net] IGF1 DEFICIENCY : Severe short stature Laron dwarfism (GH resistance) Genetic defect in the GH receptor gene IgF1 gene mutation PSEUDOHYPOPARATHYROIDISM : Primary resistance[drhc.ae]

  • Pseudoachondroplasia

    We examined an Inuit boy with PSACH and severe short stature.[ncbi.nlm.nih.gov] Genotype-phenotype analysis revealed a correlation between the position and type of mutations and the severity of short stature.[ncbi.nlm.nih.gov] Short Stature[bmcmedgenet.biomedcentral.com]

  • Chudley-Rozdilsky Syndrome

    [ncbi.nlm.nih.gov] Pseudoachondroplasia We examined an Inuit boy with PSACH and severe short stature.[symptoma.com] A child experiencing CRS may only grow to a short stature.[symptoma.com] […] bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism).[orpha.net]

  • Glycogen Storage Disease due to GLUT2 Deficiency

    short stature) persist into adulthood.[ncbi.nlm.nih.gov] short stature. [5] References [ edit ] synd/65 at Who Named It?[en.wikipedia.org] […] findings of FBS (hepatomegaly secondary to glycogen accumulation, glucose and galactose intolerance, fasting hypoglycaemia, a characteristic proximal tubular nephropathy and severe[ncbi.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Sponastrime dysplasia is a rare skeletal dysplasia characterized by severe short stature, scoliosis, a saddle nose, frontal bossing, and increased upper/lower segment ratio[ncbi.nlm.nih.gov] Physical features include severe short stature, lumbar lordosis, midface hypoplasia, frontal bossing, and a depressed nasal root (summary by Cooper et al., 2000). (271510)[malacards.org]

  • Growth Failure

    Many new microdeletion and microduplication syndromes have been identified, and several novel genes associated with short stature as part of contiguous gene syndromes have[karger.com] Clinical features (premature, severe short stature, genital underdevelopment and no response to GH therapy) and endocrine analysis (low IGF-1 and normal GH) suggested a Laron[edm.bioscientifica.com] […] compounds as growth stimulants in children with short stature.[jamanetwork.com]

  • Metabolic Syndrome

    To identify an underlying genetic etiology in two siblings with severe short stature and gonadal failure.[ncbi.nlm.nih.gov] Severe short stature can be caused by defects in numerous biological processes including defects in IGF-1 signaling, centromere function, cell cycle control, and DNA damage[ncbi.nlm.nih.gov] Many syndromic causes of short stature are associated with medical comorbidities including hypogonadism and microcephaly.[ncbi.nlm.nih.gov]

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