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46 Possible Causes for Barrel Chest, Hepatomegaly, Kyphosis

  • Cockayne Syndrome

    Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[whonamedit.com] Homepage Rare diseases Search Search for a rare disease CAMFAK syndrome ORPHA:1317 Synonym(s): CAMAK syndrome Cataract-microcephaly-arthrogryposis-kyphosis syndrome Cataract-microcephaly-failure[orpha.net] Severe CS may cause postnatal spine contractures in their early years which will lead to either scoliosis or kyphosis.[syndromespedia.com]

  • Mucopolysaccharidosis 4

    Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] Clinical examination revealed a short stature, microcephaly, short neck, cervical scoliosis, slanting forehead, barrel chest deformity, dorsolumbar kyphosis, increased anteroposterior[apicareonline.com] Children may develop: A pronounced curvature of the spine (i.e. scoliosis or kyphosis) Cloudy corneas of the eyes A heart murmur Inguinal hernia Liver enlargement Loss of[chop.edu]

  • Cor Pulmonale

    Findings include peripheral edema, neck vein distention, hepatomegaly, and a parasternal lift. Diagnosis is clinical and by echocardiography.[merckmanuals.com] Physical exam shows barrel shaped chest, inspiratory crackles, hepatojugular reflux, pulsus paradoxus, and ventricular gallop.[osmosis.org] Pneumoconiosis Sarcoidosis T1-4 vertebral subluxation Obstructive sleep apnea Interstitial lung disease Sickle cell anemia Bronchopulmonary dysplasia (in infants) Severe thoracic kyphosis[symptoma.com]

  • Mucolipidosis

    […] patients, the clinical conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly[ncbi.nlm.nih.gov] Coarse facies, a barrel chest, and short stature are characteristic. Hepatic cells contain numerous vacuoles and numerous inclusions.[disorders.eyes.arizona.edu] Abstract We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis[ncbi.nlm.nih.gov]

  • Wolcott-Rallison Syndrome

    Hepatic dysfunction is a typical feature of this syndrome presenting with hepatomegaly, elevated hepatic enzymes, and recurrent acute liver failure (4).[jcrpe.org] Conclusion: Major skeletal abnormalities of WRS are osteoporosis/osteopenia, thoracolumbar kyphosis, and bowing of the femur.[abstracts.eurospe.org] The vertebral involvement is more common in the dorsolumbar region and leads to thoracic kyphosis and/or lumbar lordosis.[docksci.com]

  • Dyggve-Melchior-Clausen Syndrome

    […] or mucopolysaccharidosis IV-A, is an uncommon storage disease characterised by a skeletal dysplasia in which short trunk dwarfism is associated with spinal malalignment, hepatomegaly[whonamedit.com] The upper part of the body seems to be more severely affected and a pigeon-shaped (or barrel) chest is one of the hallmarks of Dyggve-Melchior-Clausen syndrome.[symptoma.com] ., except that they did not have hepatomegaly. S., at 18 years of age, also showed short, broad thumbs and first toes.[healthdocbox.com]

  • Acromegaly

    Additional symptoms of acromegaly may include abnormal enlargement of the liver (hepatomegaly), spleen (splenomegaly), intestines, and/or kidneys.[rarediseases.org] chest) joint pain degenerative arthritis enlarged heart enlargement of other organs strange sensations and weakness in arms and legs (carpal tunnel syndrome) snoring fatigue[hopkinsmedicine.org] Also, bones and viscera increase in size including nose, cranium, supraorbital ridges, forehead and vertebrae, causing symptoms such as macrognathia, kyphosis, goiter and[symptoma.com]

  • Costello Syndrome

    The results of the immunological work-up showed no abnormalities, but ultrasound examination disclosed moderate hepatomegaly.[erj.ersjournals.com] Both had relative macrocephaly at birth, curly hair, large ear lobes, epicanthic folds, a low nasal bridge, thick lips, a short and wide nose, a short neck, a barrel chest[link.springer.com] Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis).[ncbi.nlm.nih.gov]

  • Acidosis

    In people who have lactic acidosis, the liver may be swollen and tender (hepatomegaly), and liver enzymes, which are measured by a liver function test , may be abnormally[aidsmap.com] During thoracic examination, patients with obstructive lung disease may have diffuse wheezing, hyperinflation (ie, barrel chest), decreased breath sounds, hyperresonance on[web.archive.org] Respiratory acidosis can be caused by inadequate respiratory function for several underlying reasons - Chest injuries, Chest deformities e.g. kyphosis, Weakness of chest muscles[symptoma.com]

  • Chest Wall Disorder

    Abdomen and lower limbs: Hepatomegaly may indicate right heart failure. Swollen calf (possible deep vein thrombosis).[patient.info] chest M95.4 Concavity chest wall M95.4 Deformity Q89.9 ICD-10-CM Diagnosis Code Q89.9 Congenital malformation, unspecified 2016 2017 2018 2019 Billable/Specific Code POA[icd10data.com] […] osteotomies Hip reconstruction Spinal fusion surgery* *Spinal fusion is often performed for scoliosis but may also be required for neck disorders, chest wall deformities, or kyphosis[emoryhealthcare.org]

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