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14 Possible Causes for Acute Respiratory Failure, Hepatomegaly, Severely Disproportionate Short Stature

  • Kyphoscoliosis

    […] other rare diseases, like Microphthalmia and Nevus, related diseases and genetic alterations Rod-cone dystrophy and Otitis media, related diseases and genetic alterations Hepatomegaly[mendelian.co] This article reports a case study of 'Sue', a 37 year old female who was transferred to a metropolitan hospital's intensive care unit in acute respiratory failure secondary[ncbi.nlm.nih.gov] Some people with Cockayne Syndrome may also have abnormally high blood pressure (hypertension), an enlarged liver (hepatomegaly), and/or the premature accumulation of fatty[rarediseases.org]

  • Multiple Sclerosis

    Abnormal enlargement of the liver (hepatomegaly) is common in individuals with Maroteaux-Lamy syndrome. Less often, the spleen may also be enlarged (splenomegaly).[rarediseases.org] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org] Affected individuals often exhibit short stature due to growth restrictions.[rarediseases.org]

  • Mucopolysaccharidosis 6

    [emedicine.medscape.com] Abnormal enlargement of the liver ( hepatomegaly ) is common in individuals with Maroteaux-Lamy syndrome.[symptoma.com] (requiring additional BMT) in 4 patients, acute respiratory distress syndrome in 3 patients, and death in 4 patients.[jamanetwork.com] Short stature is described as disproportionate because the trunk may be shorter than the legs. In severe cases, final height may be less than 4 feet (120 centimeters).[rarediseases.org]

  • Pipecolic Acidemia

    […] relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly[ohsu.pure.elsevier.com] Affected infants often have recurrence of acute illness with metabolic acidosis, vomiting, failure to thrive, lethargy, hypotonia, hepatomegaly, seizures and respiratory distress[genedx.com] RCDP types II and III are characterized by variable severity of clinical manifestations and by disproportionately short stature that primarily affects the proximal parts of[emedicine.medscape.com]

  • Growth Failure

    Fanconi-Bckel syndrome, Rickets, Hepatomegaly, Growth hormone, Growth velocity.[innovationinfo.org] […] accidental trauma, or respiratory failure)—Growth hormone use has not been studied in patients with these serious illnesses.[mayoclinic.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Mycoplasma Pneumonia

    Abnormal enlargement of the liver (hepatomegaly) is common in individuals with Maroteaux-Lamy syndrome. Less often, the spleen may also be enlarged (splenomegaly).[rarediseases.org] A previously fit 48-year-old man was admitted with an acute respiratory failure due to mycoplasma pneumonia that was confirmed by raised mycoplasma titre on complement fixation[ncbi.nlm.nih.gov] Erythrocytopenia and thrombocytopenia were observed in a patient with acute respiratory failure, liver dysfunction and renal failure.[ncbi.nlm.nih.gov]

  • Acro-Pectoral Syndrome

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.com] Montipora White Syndrome Miscellaneous Unclassified PAWS Means Post Acute Withdrawal Syndrome Miscellaneous Unclassified AHFS Means Acute Heart Failure Syndrome Miscellaneous[abreacro.com] […] coxa vara and disproportionate short stature, abnormal epiphyses and vertebra plana Femoral head ossification not until 5 years Vertebrae are flattened throughout and pear[flinders.edu.au]

  • Chondrodystrophy

    肝細胞性黄疸】 *hepatocholangiocarcinoma【胆管肝癌】 *hepatocholangitis【肝胆管炎】 *hepatocirrhosis【肝硬変症】 *hepatodynia【肝臓痛】(hepatalgia) *hepatojugular reflux【肝頚静脈逆流】 *hepatolithiasis【肝内結石症】 *hepatomegaly[medo.jp] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] ribs craniosynostosis polysyndactyly Short stature abnormal skin pigmentation mental retardation Short stature contractures hypotonia Short stature cranial hyperostosis hepatomegaly[personalizedcause.com] […] heart failure High blood pressure Respiratory diseases Lung diseases Birt-Hogg-Dube syndrome Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) Cutis[csirnotes.com] short-trunk short stature Limited elbow extension Generalized hypertrichosis Irregular epiphyses Macrocephaly Severe short stature Oxycephaly Low-set, posteriorly rotated[mendelian.co]

  • Frontometaphyseal Dysplasia

    […] in the newborn period 516 Hepatomegaly in children General overview 517 Hepatomegaly with portal hypertention and obstructive jaundice 519 Liver calcifications in the pediatric[books.google.de] Oculodentodigital dysplasia Omenn syndrome Precursor B-cell acute lymphoblastic leukemia Pseudohypoaldosteronism type 2E SHORT syndrome Syndactyly type 3 Tibial muscular[csbg.cnb.csic.es] Other non-lethal skeletal dysplasias result in disproportionate short stature. Achondroplasia is the most common cause of disproportionate short stature worldwide.[blueprintgenetics.com]

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