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325 Possible Causes for Enlargement of the Liver, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis

    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] […] of the liver and spleen and decreased range of motion and mobility.[efpia.eu] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] liver and spleen Hernia (inguinal or umbilical) Hearing loss Delayed mental development Coarse facial features Communicating hydrocephalus (fluid on the brain) Abnormally[mps1disease.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]

  • Aarskog-Scott Syndrome

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[en.wikipedia.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] 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]

  • Lipodystrophy

    No patient had umbilical hernia.[dmsjournal.biomedcentral.com] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org] These patients often present with low height and weight, developmental delays, enlarged livers (hepatomegaly) and often have chronic anemia, elevated liver enzymes and elevated[autoinflammatory.org]

  • Beckwith-Wiedemann Syndrome

    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] The fetus presented an enlarged liver and cytomegaly in the adrenal glands, hyperplastic islets of Langerhans in the pancreas, and some microcysts with cuboidal epithelium[ncbi.nlm.nih.gov]

  • Chromosome 18p Deletion Syndrome

    hernia (7%) Coloboma (4%) Eczema (4%) Inguinal hernia (4%) Large protruding forehead (4%) Dysplastic teeth (4%) Delayed fontanel closure (4%) Chorea (3%) Low posterior hairline[en.wikibooks.org] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Mild nonspecific enlargement of the liver and spleen were detected by abdominal ultrasound.[ashg.org]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] .) - Atlanta, GA, USA TAT : 2-4 weeks price : contact lab Comprehensive Metabolic Disease Hepatomegaly (NextGen Sequencing Panel and Copy Number Analysis; 79 genes mtDNA)[genetests.org]

  • Simpson Dysmorphia Syndrome

    hernia ), and skeletal anomalies. [3] [4] Some people with the condition have a mild to severe intellectual disability.[rarediseases.info.nih.gov] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] liver enlargement (excluding storage disease) - Hypertelorism - Macrocephaly / macrocrania / megalocephaly / megacephaly - Macroglossia / tongue protrusion / proeminent[csbg.cnb.csic.es]

  • Down Syndrome

    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] 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] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

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