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32 Possible Causes for Prenatal-Onset Disproportionately Short Stature

  • Skeletal Dysplasia

    In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion[ncbi.nlm.nih.gov] For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com]

  • Facioauriculoradial Dysplasia

    onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and[mendelian.co] […] match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal[mendelian.co]

  • Boomerang Dysplasia

    For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com]

  • Mesomelic Dysplasia Type Langer

    Auxological parameters are fundamental to investigate potential short stature (SS), either with a known diagnosis, e.g. disproportionate or proportionate, prenatal and/or[karger.com] […] postnatal onset, or an unknown diagnosis, i.e. idiopathic SS.[karger.com]

  • Spondyloperipheral Dysplasia

    short stature of prenatal onset.[emedicine.medscape.com] disproportionate short stature of prenatal onset.[nature.com] II-hypochondrogenesis and lethal spondyloepiphyseal dysplasia congenita (SEDC) represent the more severe end of the spectrum. [7] These entities are characterized by severe disproportionate[emedicine.medscape.com]

  • X-Linked Mandibulofacial Dysostosis

    For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com]

  • Cartilage Hair Hypoplasia

    short-limb short stature (present in 100% of affected adults; prenatal onset in 76%-93%) Short fingers and toes Bowed femora and tibiae (present in 77%) Laxity of ligaments[ncbi.nlm.nih.gov] […] extension of the elbows Fine, silky hair Increased rate of infections or intestinal dysfunction or anemia Clinical Findings by Phenotype Cartilage-hair hypoplasia (CHH) Disproportionate[ncbi.nlm.nih.gov]

  • Mesomelic Dysplasia Type Savarirayan

    For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com]

  • Kniest Dysplasia

    For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com]

  • Atelosteogenesis

    For many of the other disorders, disproportionate short stature or orthopedic complications do not manifest until childhood.[nature.com] Of the 300 skeletal dysplasias, 100 have onset in the prenatal period.[nature.com] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com]

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