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231 Possible Causes for Short Stature from Birth

  • Growth Failure

    While congenital GHD and most cases of idiopathic GHD are thought to be present from birth, diagnosis is often delayed until the patient’s short stature is noticed in relation[rarediseases.org] Growth of extremely preterm survivors from birth to 18 years of age compared with term controls. Pediatrics 2013;131(2):e439–45. Cohen LE.[racgp.org.au] Idiopathic short stature: A clinical review. JAMA 2014;311(17):1787–96. Davies JH, Cheetham T. Investigation and management of tall stature.[racgp.org.au]

  • Spondyloepiphyseal Dysplasia Congenita

    People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs.[ghr.nlm.nih.gov] Congenita indicates that the condition is present from birth.[ghr.nlm.nih.gov]

  • Spondyloepimetaphyseal Dysplasia Type Strudwick 

    Definition A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis[uniprot.org] stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot[orpha.net] People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized.[ghr.nlm.nih.gov]

  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis[abcam.com]

  • Klinefelter Syndrome

    […] in height compared with typical peers, from short stature to heights in the upper percentiles (mean Z-score/standard deviation score 0.21 1.45, range 4.5 to 2.8).[ncbi.nlm.nih.gov] In 48,XXYY syndrome, a cross-sectional study of 95 males age 1–55 showed mean birthweight and birth length in the average range; however, boys aged 10 or younger ranged significantly[ncbi.nlm.nih.gov]

  • X-Linked Spondyloepimetaphyseal Dysplasia

    Congenita indicates that the condition is present from birth.People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and[icdlist.com] Presentation People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs.[ipfs.io] Presentation [ edit ] People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs.[en.wikipedia.org]

  • May-Thurner Syndrome

    — for example, short stature, ovarian insufficiency and heart defects.[mayoclinic.org] Physical characteristics and health complications that arise from the chromosomal error vary greatly.[mayoclinic.org] Effect of the chromosomal errors The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth[mayoclinic.org]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs.[littlepeopledoc.com] Short stature from birth Very short trunk and neck Shortened limbs Hands and feet are usually average-sized Progressive abnormal curvature of the spine (kyphoscoliosis and[littlepeopleuk.org] Congenita indicates that the condition is present from birth.People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and[icdlist.com]

  • Skeletal Dysplasia

    People with Spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs.[slideshare.net] Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[ncbi.nlm.nih.gov] […] disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[doi.org]

  • Therapeutic Abortion

    We have previously shown that short stature is a risk factor for spontaneous preterm birth in Scotland [7], and this has also been confirmed in a meta-analysis of more than[journals.plos.org] We have previously shown that short stature is a risk factor for spontaneous preterm birth in Scotland [7] , and this has also been confirmed in a meta-analysis of more than[journals.plos.org] 50 studies from around the world [8].[journals.plos.org]

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