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3,270 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Hepatosplenomegaly

  • Mucopolysaccharidosis

    In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis[ncbi.nlm.nih.gov] Mucopolysaccharidosis VI, also called as Maroteaux-Lamy syndrome, in its severe form presents with bony lesions, corneal clouding, hepatosplenomegaly, cardiovascular abnormalities[ncbi.nlm.nih.gov] RESULTS: Hepatosplenomegaly decreased significantly in all patients, and the size of the liver was normal for body weight and age in eight patients by 26 weeks.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    Enzyme replacement therapy (ERT) using idursulfase (Elaprase ) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and[ncbi.nlm.nih.gov] Initial manifestations include: frequent respiratory tract infections (in particular otitis media); umbilical and inguinal hernia; intractable diarrhea; hepatosplenomegaly[orpha.net] […] findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver and spleen (hepatosplenomegaly[secure.ssa.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    [termedia.pl] Liver, Gall & Pancreas Hepatosplenomegaly Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly[symptoma.com] This disorder is characterized by normal cognition, coarse faces and dysostosis multiplex, hepatosplenomegaly, and cardiac valve disease.[malacards.org] Clinical findings Abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly and cardiac defects.[medical-dictionary.thefreedictionary.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] The radiological findings included: (1) ivory epiphyses affecting all phalanges in one patient and many phalanges in another; (2) cone-shaped epiphyses in the proximal phalanges[ncbi.nlm.nih.gov]

    Missing: Hepatosplenomegaly
  • Juvenile Rheumatoid Arthritis

    On admission, he presented with an FUO with hepatosplenomegaly, aseptic meningitis, and pericarditis. An extensive diagnostic workup ruled out lymphoma and leukemia.[ncbi.nlm.nih.gov] The acetabulum may have a shallow dysplastic morphology with a laterally and superiorly subluxated hip similar to patients with congenital hip dysplasia.[healio.com] Physical and laboratory results showed hepatosplenomegaly, high fever, pancytopenia and impaired liver and renal function tests, elevated triglyceride and serum ferritin levels[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Camurati-Engelmann Syndrome

    Patients can have hepatosplenomegaly 5. In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.[radiopaedia.org] Cordier M-P congenital talus valgus, hip dysplasia, right sacroiliac pit and Okihiro syndrome plus developmental delay.[ikixysomejak.xpg.uol.com.br] Vascular ( Raynaud's phenomenon ) and hematological ( anemia, leukopenia (low level of white blood cells), increased erythrocyte sedimentation rate ) features and hepatosplenomegaly[xpertdox.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Congenital Dyserythropoietic Anemia Type 1

    Most affected individuals have hepatosplenomegaly and iron does not accumulate in tissues and organs.[ivami.com] dysplasia (1).[bloodjournal.org] Many affected individuals have yellowing of the skin and eyes ( jaundice ) and an enlarged liver and spleen ( hepatosplenomegaly ).[rarediseases.info.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Osteopetrosis

    MIOP should be kept in mind as a rare cause of hepatosplenomegaly.[ncbi.nlm.nih.gov] -756 ) Limbs hip : Dislocation of hip / Hip dysplasia - Upington disease feet ( Club foot, Flat feet, Pes cavus ) systemic dislocations Larsen syndrome head, face, spine and[wikidoc.org] Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Infectious Mononucleosis

    Both cases involved young adults presenting with fever, pharyngitis, lymphadenopathy, hepatosplenomegaly, and atypical lymphocytosis confirmed by serologic tests, liver biopsy[ncbi.nlm.nih.gov] Third, the frequency of CD4CXCR5ICOSPD1 Tfh subset was significantly higher in lymphadenectasis or hepatosplenomegaly patients, and associated with the level of alanine aminotransferase[ncbi.nlm.nih.gov] She presented with fever, skin rash, lymphadenopathy, and hepatosplenomegaly.[ncbi.nlm.nih.gov]

    Missing: Congenital Hip Dysplasia Disharmonic Maturation of Phalanges and Carpal Bones
  • Waters-West Syndrome

    33 HP:0001433 Symptoms via clinical synopsis from OMIM: 58 Abdomen External Features: ascites Head And Neck Head: flat occiput Abdomen Liver: hepatosplenomegaly Head And[malacards.org] […] spine disease Spinocerebellar ataxia 11 Congenital contractural arachnodactyly Microphthalmia syndromic 6 Glucocorticoid-remediable aldosteronism Ectodermal dysplasia, hidrotic[checkrare.com] The second-born infant had massive ascites and hepatosplenomegaly.[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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