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94 Possible Causes for Hepatomegaly, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] […] 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]

  • 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] Often, the first symptoms of Hunter syndrome may include inguinal or umbilical hernias, ear infections, runny noses and frequent upper respiratory infections.[onepath.com] Protuberant abdomen Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly[symptoma.com]

  • Mucopolysaccharidosis 1

    Scheie's syndrome Scheie patients tend to be diagnosed as teenagers with hepatomegaly, joint contractures, cardiac valve abnormalities and corneal clouding.[patient.info] Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net]

  • Lipodystrophy

    Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.[dnatesting.uchicago.edu] No patient had umbilical hernia.[dmsjournal.biomedcentral.com] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org]

  • Beckwith-Wiedemann Syndrome

    […] creases / pits Case of BWS with an enlarged tongue and omphalocele Gross images Images hosted on other servers: Large lobulated adrenal glands Placental mesenchymal dysplasia Hepatomegaly[pathologyoutlines.com] hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[ncbi.nlm.nih.gov] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

    […] of the feet, ligament laxity, osteochondritis dissecans, genu recurvatum, flat feet, cervical spine hypermobility, odontoid anomaly, macrocytic anemia, hemochromatosis, hepatomegaly[medical-dictionary.thefreedictionary.com] Umbilical hernia (where the belly button sticks out) and inguinal hernia (swelling in the groin from a weakness in the abdominal wall) are also common.[cafamily.org.uk] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

  • Liver Cirrhosis

    Cardinal symptoms include fasting hypoglycemia, lactic acidosis and hepatomegaly as well as neutropenia.[ncbi.nlm.nih.gov] However, peripheral cyanosis involving the fingers, toes, area around an umbilical hernia, and scrotum was noted. Thus, terlipressin administration was discontinued.[ncbi.nlm.nih.gov] face ("chipmunk cheeks") Enlarged abdomen Inability to sleep Mood swings Hand tremors (shaking) Acne Steroid dependency Note: Patients must never stop or reduce the prednisone[emedicinehealth.com]

  • Hepatosplenic Amyloidosis

    Craggy hepatomegaly Suggests: primary hepatoma or secondary tumours.[patient.info] hernia repair Laparoscopy scars – more common, very small and multiple (often one at umbilicus) Lateral thoracolumbar incision – nephrectomy 5.[mrcpch.paediatrics.co.uk] Contributions from many leading surgical pathologists give you well-rounded, expert answers to any question that you may face.[books.google.com]

  • Mauriac's Syndrome

    Mauriac's syndrome should be considered in subjects with brittle type 1 diabetes and hepatomegaly.[ncbi.nlm.nih.gov] Study: post-surgery opioid prescription rates for children vary by region 12/20/2018 More than 50 percent of children who undergo umbilical hernia repair are given opioids[med.wisc.edu] She had no dysmorphic features, but a rounded, moonish face.[pediatriceducation.org]

  • Down Syndrome

    Ultrasound features indicative of TAM included hepatomegaly splenomegaly (79.5%), hydrops fetalis (30.8%), pericardial effusion (23.1%) and aberrant liquor volume (15.4%).[ncbi.nlm.nih.gov] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] Amongst these features, hepatomegaly, splenomegaly, pericardial/pleural effusions and skin rash are seen more frequently in neonates with TAM compared with neonates without[doi.org]

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