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64 Possible Causes for Enlargement of the Spleen, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    Often, the first symptoms of Hunter syndrome may include inguinal or umbilical hernias, ear infections, runny noses and frequent upper respiratory infections.[onepath.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] […] and inguinal hernia, diarrhea, developmental delay, and intellectual disability.[symptoma.com]

  • 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] […] tongue), corneal clouding, hearing loss, heart problems, an enlarged liver and spleen, hernias, chronic nasal congestion and ear infections.[luriechildrens.org] 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 Syndrome

    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] 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] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

  • Beckwith-Wiedemann Syndrome

    hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[ncbi.nlm.nih.gov] Combs John Bruce Beckwith Main symptoms are gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital[whonamedit.com] 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]

  • 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] Mild nonspecific enlargement of the liver and spleen were detected by abdominal ultrasound.[ashg.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]

  • 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] Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities[ghr.nlm.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]

  • Omphalocele

    The remaining 2 patients are awaiting surgery for persisting umbilical hernia repair and umbilicoplasty, respectively.[ncbi.nlm.nih.gov] This syndrome is characterized by heavy birthweight and an enlarged liver, spleen and tongue.[peytonmanningch.org] Later in life these patients face additional problems including a higher incidence of Wilms tumor, hepatoblastoma and adrenocortical neoplasms.[clinicalpainadvisor.com]

  • Liver Cirrhosis

    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] Other later symptoms, some due to complications, include: Reddened palms Loss of body hair Enlarged liver Enlarged spleen Appearance of thin, purplish-red, spidery looking[chp.edu] 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]

  • Aspartylglucosaminuria

    During the first year of life inguinal and umbilical hernias are common.[en.wikipedia.org] , thick lips and a square shape of face, was found to be present long before the coarsening begins.[ncbi.nlm.nih.gov] Less severe symptoms include: enlargement of the spleen and liver diarrhea People with aspartylglucosaminuria may have lower than average height, because they tend to go through[en.wikipedia.org]

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