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268 Possible Causes for Hepatosplenomegaly, Round Face, Umbilical Hernia

  • 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] 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]

  • 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] 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] 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]

  • Mucopolysaccharidosis 1

    Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[icd10data.com] Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] 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

    The babies may have an umbilical protrudence or hernia and hepatosplenomegaly.[clinicaladvisor.com] 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

    […] finding 4 otic dysplasia ref omphalocoele localized gigantism / macrosomia hemihypertrophy cardiac anomalies pancreatic islet cell hyperplasia organomegaly nephromegaly hepatosplenomegaly[radiopaedia.org] 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]

  • Chromosome 18p Deletion Syndrome

    The abdominal ultrasound confirmed hepatosplenomegaly of 9.2 cm found on physical examination.[ijcasereportsandimages.com] 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]

  • Hepatosplenic Amyloidosis

    With coalescence, a diffusely infiltrative appearance with concurrent hepatosplenomegaly may result.[ctisus.com] 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]

  • Simpson Dysmorphia Syndrome

    Supernumerary nipples, rib abnormalities, pectus excavatum, hepatosplenomegaly, umbilical or inguinal hernia, and cryptorchidism may be present.[react-community.org] 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]

  • Down Syndrome

    Lugen Chen, Qinglong Hu, Harshad O Shah and Jen H Lin, Leukocytosis, Thrombocytopenia, and Hepatosplenomegaly In A Neonate With Down Syndrome, Laboratory Medicine, 35, 9,[dx.doi.org] 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] 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]

  • Spondyloepiphyseal Dysplasia Type Cantú

    […] aplasia 2352 Hypotrichosis-intellectual disability, Lopes type 2 cases1266 2 cases 1046 2 cases1659 Craniosynostosis-radial aplasia, Imaizumi type 2 cases 2347 Ichthyosis - hepatosplenomegaly[fliphtml5.com] Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org]

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