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35 Possible Causes for Enlargement of the Spleen, Scoliosis, Tracheomalacia

  • Mucopolysaccharidosis 2

    Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com] Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[secure.ssa.gov] Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org]

  • Mucopolysaccharidosis 4

    Tracheomalacia in an adult with respiratory failure and Morquio syndrome. Respir Care. 2007; 52 (3):278–282. [ PubMed ] Peters C, Steward CG.[ncbi.nlm.nih.gov] Other features include intellectual disability, enlarged liver and spleen, stiffness of the joints, hearing loss and seizures. No treatment is known.[sema4genomics.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]

  • Proteus Syndrome

    Tracheomalacia and muscle hypoplasia each affected 3 (13%) of the patients.[jamanetwork.com] Abstract A 37-year-old female presented with Proteus syndrome and was found to have an asymptomatic enlarged spleen. Pathology confirmed splenic lymphangiomatosis.[ncbi.nlm.nih.gov] Usually, scoliosis does not respond to bracing, and surgical intervention may be required.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    Tracheomalacia can contribute to breathing difficulties and may precipitate respiratory arrest.[rarediseases.org] Eye changes, consisting of corneal opacification and hypertelorism, or unusual widening of the space between the eyes, and enlargement of the liver and spleen are also features[britannica.com] "He had a scoliosis which was looking worse. Everything seemed to be just not adding up correctly."[abc.net.au]

  • Weismann Netter Syndrome

    Other features include hypertelorism, flat nasal bridge, low-set ears, tracheomalacia and complete sex reversal in two thirds of affected genetic males. 2, 3, 4 There is a[nature.com] Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations,[orpha.net] We are pleased to have been able to purchase him […] Haris aged one suffers with hypotonia, macrocephally and has an enlarged liver and spleen.[strongbones.org.uk]

  • Fetal Warfarin Syndrome

    RESULTS: Along with typical facial features of FWS and multiple epiphyseal stippling in skeletal x-ray, Case 1 had Dandy-Walker malformation and Case 2 had laryngo-tracheomalacia[ncbi.nlm.nih.gov] Because blood flow out of the liver is impeded, blood backs up in the liver, causing it to enlarge. The spleen may also enlarge.[merckmanuals.com] It may be accompanied by scoliosis and hypoplasia of the extremities, ranging from rhizomelia to dystrophic nails.[symptoma.com]

  • Osteopathia Striata

    […] agenesis of corpus callosum (rare in males), hearing conductive loss, hypertelorism, cleft palate, ventricular septal defect, atrial septal defect, paranasal sinus hypoplasia, tracheomalacia[iofbonehealth.org] The radiographic findings include cranial sclerosis, linear striations in the long bones and iliac wings, small poorly aerated sinuses, scoliosis, and increased bone density[ncbi.nlm.nih.gov] […] liver and spleen (hepatosplenomegaly).[icdlist.com]

  • Autosomal Recessive Spastic Paraplegia Type 7

    […] canal Congenital primary lymphedema Congenital pseudoarthrosis of the fibula Congenital pulmonary valve stenosis Congenital pulmonary veins atresia or stenosis Congenital tracheomalacia[sanfordresearch.org] People with this form of spastic paraplegia may also have hyperreflexia in the arms, dysarthria, dysphagia, nystagmus, mild hearing loss, scoliosis, foot arch elevation, sensory[ivami.com] Glycogen Storage Disease, Type 4 often causes symptoms in infancy with poor feeding and growth (failure to thrive), an enlarged liver and spleen, enlarged heart, low muscle[natera.com]

  • Isolated Congenital Breast Hypoplasia or Aplasia

    Tracheomalacia Tracheomalacia is abnormal collapsibility of the trachea, which is caused by softness or pliability of the tracheal cartilages.[radiologykey.com] The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the[checkrare.com] His back exam was normal without deformity or scoliosis. Measurement from the greater tuberosity of the humerus to the ulnar styloid was 54cm bilaterally.[amssm.org]

  • Microgastria, congenital

    کلیدواژه Congenital Microgastria; Gastroesophageal Reflux; Congenital Tracheomalacia; Tracheomalacia; Limb Defect آدرس hamadan university of medical sciences, Department of[ecc.isc.gov.ir] Additionally, he had scoliosis, left deviating torticollis, and an undescended left atretic testicle.[journals.lww.com] […] colon lacking nerve cells 0002251 Asplenia Absent spleen 0001746 Bicornuate uterus Heart shaped uterus Heart-shaped uterus [ more ] 0000813 Biliary tract abnormality 0001080[rarediseases.info.nih.gov]

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