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3,840 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Hepatomegaly

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] […] neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with snoring, wide-spaced teeth, short thick neck, hepatomegaly[ncbi.nlm.nih.gov] Sustained IDS expression had a profound effect on normalization of GAG in all tested tissues and on prevention of hepatomegaly.[ncbi.nlm.nih.gov]

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

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly[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]

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

    [emedicine.medscape.com] Abnormal enlargement of the liver ( hepatomegaly ) is common in individuals with Maroteaux-Lamy syndrome.[symptoma.com] […] of Maroteaux-Lamy syndrome in a child aged 9 years whose diagnosis was suspected clinically by the combination of a dysmorphic syndrome, prominent ophthalmological signs, hepatomegaly[scopemed.org] Hepatomegaly, corneal clouding, claw-hand deformities, cardiac valve involvement, decreased pulmonary function, and sleep apnea become evident as the child ages.[egl-eurofins.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cor Pulmonale

    Findings include peripheral edema, neck vein distention, hepatomegaly, and a parasternal lift. Diagnosis is clinical and by echocardiography.[merckmanuals.com] One example of coxa vara with hip dysplasia is in Congenital Femoral Deficiency Femoral deformities can also arise after treatment of hip dysplasia.[paleyinstitute.org] […] gallop rhythm (3rd [S3] and 4th [S4] heart sounds) augmented during inspiration, distended jugular veins (with a dominant a wave unless tricuspid regurgitation is present), hepatomegaly[msdmanuals.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Ascending Cholangitis

    Physical examination may reveal the following: Fever (90%), although elderly patients may have no fever RUQ tenderness (65%) Mild hepatomegaly Jaundice (60%) Mental status[emedicine.medscape.com] […] of the hip Diabetes insipidus Diabetes mellitus Diagnostic evaluation of the kidney and urinary tract Diagnostic investigations in urology Diagnostic procedures in gynecology[amboss.com] Tender hepatomegaly can be seen in viral hepatitis, congestive heart failure, and alcoholic hepatitis.[ncbi.nlm.nih.gov]

    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: Hepatomegaly
  • Osteopetrosis

    We noted more severe radiological findings in patients with TCIRG1 and RANK mutations, including fractures, osteopetrorickets, hydrocephalus, and hepatomegaly.[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] The younger sibling had splenomegaly of 10 cm below left sub-costal margin in its axis but no hepatomegaly.[bmcresnotes.biomedcentral.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Ehlers-Danlos Syndrome

    Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome. Pediatr Int. ,60:378-380 2018 Author:Natsume T, Takano K, Motobayashi M, Kosho T.[soar-rd.shinshu-u.ac.jp] Developmental dysplasia of the hip (formerly congenital hip dislocation) occurs in 1% (the arthrochalasis type is characterized by bilateral developmental dysplasia of the[msdmanuals.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Congenital Muscular Torticollis

    […] 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.ro] Associated Conditions Congenital asymmetric contractures of hip abductors Unilateral Congenital Hip Dysplasia Unilateral Metatarsus Adductus V.[fpnotebook.com] Increased distance between the intestinal loops 511 Intraabdominal cysts in children 512 Migratory peritoneal calcifications 514 Peritoneal pseudotumors 515 The Liver 1 Hepatomegaly[books.google.ro]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Chronic Alcoholism

    Hepatomegaly (in chronic alcoholic liver disease the liver is shrunken). Ascites; gonadal atrophy. Atrial fibrillation and cardiomyopathy.[patient.info] Characteristic ultrasonographic findings include a hyperechoic liver with or without hepatomegaly.[clevelandclinicmeded.com] Most patients with moderate disease are undernourished and present with fatigue, fever, jaundice, right upper quadrant pain, tender hepatomegaly, and sometimes a hepatic bruit[merckmanuals.com]

    Missing: Congenital Hip Dysplasia Disharmonic Maturation of Phalanges and Carpal Bones

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