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29 Possible Causes for Upper to Lower Segment Ratio Decreased

  • PDE4D Haploinsufficiency Syndrome

    Dr. Han-Ting Zhang received his M.D. from Southern Medical University (formerly the First Military Medical University) in Guangzhou and M.S. and Ph.D. of Pharmacology from Beijing Institute of Pharmacology & Toxicology, the Military Academy of Medical Sciences, China in 1995. He worked as a postdoctoral fellow at[…][]

  • Marfanoid Habitus with Situs Inversus

    Cutis Laxa-Marfanoid Syndrome dextrocardia Fraser Jequier Chen Syndrome Hypoglossia with Situs Inversus Jeune Syndrome Situs Inversus Levocardia Loeys-Dietz syndrome Lujan Fryns Syndrome MARFAN LIPODYSTROPHY SYNDROME Marfan Syndrome Type 2 Marfanoid Habitus with Microcephaly and Glomerulonephritis Marfanoid[…][]

  • Primary Hypertrophic Osteoarthropathy

    Primary hypertrophic osteoarthropathy (PHO), also known as pachydermoperiostosis is a rare genetic disease which predominantly affects skin, bone and soft connective tissue. It is characterized by the triad of pachydermia, digital clubbing and periostosis of long bones. Arthralgia or arthritis is also present in[…][]

  • Ehlers-Danlos Syndrome, Type 6

    Help Watch the 'search for a disease' video tutorial Procedures: Orphanet inventory of rare diseases Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems: each disease in Orphanet is attributed a unique and[…][]

  • Brittle Cornea Syndrome

    Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resulting in blindness[…][]

  • Brachyolmia, Recessive Hobaek Type

    Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio.[]

  • Brachyolmia

    Beyond puberty, the patients are short in stature, mainly due to a short trunk with decrease upper and lower body segment ratio.[]

  • Autosomal Recessive Spondylocostal Dysostosis

    Clinical findings are: short neck, short trunk, decreased upper to lower segment ratio, vertebral and costal malformations and normal intelligence.[]

  • Langer Mesomelic Dysplasia

    […] arm span and increased upper/ lower segment ratio Short stature Limbs Abnormality Fibula rudimentary Increased carrying angle Madelung deformity Radius dorsolaterally bowed[] Groups Close Images References References Online Mendelian Inheritance in Man Close Signs / Symptoms (11) Craniofacial Mandibular hypoplasia Growth Decreased[]

  • Autosomal Dominant Myopia 17

    Abstract We report on four individuals in one kindred with relative or absolute short stature; increased upper/lower segment ratio with decreased arm span; mandibular prognathism[]

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