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103 Possible Causes for Disproportionate Short-Limbed Short Stature

  • Thoracomelic Dysplasia

    short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873 16 limb undergrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009826 17 flat face 59[malacards.org] short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more[rarediseases.info.nih.gov] 0003307 13 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019 14 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692 15 disproportionate[malacards.org]

  • Acrodysostosis

    short-limb short stature Short limb dwarfism, disproportionate Short-limbed dwarfism [ more ] 0008873 Elevated circulating parathyroid hormone level 0003165 Fair hair Blond[rarediseases.info.nih.gov] Dental malocclusion Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ] 0000689 Dislocated radial head 0003083 Disproportionate[rarediseases.info.nih.gov]

  • Pseudoachondroplasia

    A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus[ncbi.nlm.nih.gov] Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature.[ncbi.nlm.nih.gov] Notice the disproportionate short-limb short stature.[doi.org]

  • Skeletal Dysplasia

    It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org] Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature.[ncbi.nlm.nih.gov] Features include: Disproportionately short stature (short limbs or short trunk).[patient.info]

  • Chondrodystrophy

    It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org] Clinical Characteristics Clinical Description Pseudoachondroplasia is characterized by disproportionate short-limb short stature.[ncbi.nlm.nih.gov] Notice the disproportionate short-limb short stature.[doi.org]

  • Coxa Vara

    The limbs are disproportionately short compared to the trunks, with upper limbs affected more than lower limbs.[scielo.org.za] Discussion Affected individuals usually have mildly short stature; their length at birth is usually normal, but decreases to around the second centile by the age of 4-8 years[scielo.org.za]

  • Autosomal Dominant Rhegmatogenous Retinal Detachment

    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]

  • 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] […] diaphyses Anasarca Calvarial hyperostosis Thrombocytosis Irritability Restlessness Cellulitis Tibial bowing Increased antibody level in blood Leukocytosis Bowing of the legs Disproportionate[mendelian.co]

  • Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

    OMIM : 57 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff[malacards.org] short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay[orpha.net] Affected individuals have a disproportionate short stature with a short and stiff neck and trunk.[ncbi.nlm.nih.gov]

  • Coxa Valga

    short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait.[ncbi.nlm.nih.gov] Spondyloepimetaphyseal dysplasia X-linked MedGen UID: 376281 • Concept ID: C1848097 • Disease or Syndrome A rare genetic primary bone dysplasia disorder with characteristics of disproportionate[ncbi.nlm.nih.gov]

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