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997 Possible Causes for Trunk Shortness

  • Spondylocostal Dysostosis

    Jarcho-Levin syndrome is a clinical-radiological diagnosis with clinical evidence of short neck, short trunk, normal-sized limbs, or increased arm span, and vertebral and[ncbi.nlm.nih.gov] This syndrome is usually diagnosed in newborns with short neck and trunk and short stature.[ncbi.nlm.nih.gov] , short trunk, thoracolumbar scoliosis and a right parietal hernia (Spiegel hernia) ( Figure 1 ).[omicsonline.org]

  • Spondylometaphyseal Dysplasia Type Kozlowski 

    short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flat acetabular roof 0003180 Irregular[rarediseases.info.nih.gov] […] stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period[ncbi.nlm.nih.gov] […] and short limbs, to childhood, when, due to progressive spinal changes, it becomes a short trunk dwarfism.[ojrd.biomedcentral.com]

  • Congenital Scoliosis due to Bony Malformation

    Brachyolmia is a rare short-trunk short stature skeletal dysplasia characterized by generalized platyspondyly without significant epiphyseal or metaphyseal changes in the[ncbi.nlm.nih.gov] Phenotypic characteristics of PAPSS2-brachyolmia include short-trunk short stature, normal intelligence and facies, spinal deformity, and broad proximal interphalangeal joints[ncbi.nlm.nih.gov] AR brachyolmia, Hobaek/Toledo type is characterized by short-trunked short stature with platyspondyly and scoliosis.[rarediseases.info.nih.gov]

  • Spondyloepiphyseal Dysplasia Congenita

    (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially[dovemed.com] The clinical findings include short-trunk dwarfism, myopia, frequent retinal detachment, shortening of the spine and proximal extremities, mild thoracic kyphoscoliosis, a[ncbi.nlm.nih.gov] Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominantly inherited chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal[ncbi.nlm.nih.gov]

  • Dyggve-Melchior-Clausen Syndrome

    short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Hyperlordosis Prominent swayback[rarediseases.info.nih.gov] Broad foot Camptodactyly Carpal bone hypoplasia Coarse facial features Cone-shaped epiphyses of the phalanges of the hand Coxa vara Deformed sella turcica Disproportionate short-trunk[dovemed.com] Abstract The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive[ncbi.nlm.nih.gov]

  • Platyspondyly

    The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum[read.qxmd.com] Pathology by systems Locomotory system Bones non-short-trunk chondrodysplasia with platyspondyly Thursday 16 November 2006 Types achondroplasia thanatophoric dysplasia (thanatophoric[humpath.com] Affected individuals may be relatively tall despite the presence of a short trunk.[mendelian.co]

  • Kniest Dysplasia

    Kniest dysplasia A rare subtype of collagenopathy (types II and XI) characterised by defective bone growth with short-trunk, short-limb dwarfism, painful enlarged joints leading[medical-dictionary.thefreedictionary.com] short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Dumbbell-shaped long bone 0000947 Enlarged thorax Wide rib cage[rarediseases.info.nih.gov] Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus[medical-dictionary.thefreedictionary.com]

  • X-Linked Spondyloepimetaphyseal Dysplasia

    short stature Disproportionate short-trunked dwarfism Disproportionate short-trunked short stature Short-trunked dwarfism [ more ] 0003521 Flared iliac wings 0002869 Flat[rarediseases.info.nih.gov] The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence.[ncbi.nlm.nih.gov] Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone[uniprot.org]

  • X-Linked Spondyloepiphyseal Dysplasia Tarda

    A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic[ncbi.nlm.nih.gov] BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is an X-chromosome linked primary skeletal dysplasia characterized by a disproportionate short-trunked short stature,[ncbi.nlm.nih.gov] Abstract Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked[ncbi.nlm.nih.gov]

  • Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia

    Abstract Spondyloepiphyseal dysplasia tarda (SEDL) is a radiologically distinct, X-chromosome linked primary skeletal dysplasia characterised by disproportionate short-trunked[ncbi.nlm.nih.gov] A 23-year-old man was diagnosed as having X-linked spondyloepiphyseal dysplasia tarda (SEDT; MIM 313400) based on his disproportionately short trunk, short stature, characteristic[ncbi.nlm.nih.gov] Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically heterogeneous disorder of vertebral and epiphyseal growth resulting in disproportionally short-trunked[ncbi.nlm.nih.gov]

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