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523 Possible Causes for Hepatomegaly, Mental Retardation, Round Face

  • 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] […] 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] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[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]

  • 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] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] Other possible features include pulmonary compromise, valvular heart disease, hearing loss, hepatomegaly, fine corneal clouding, and widely spaced teeth with abnormally thin[genedx.com]

  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov]

  • Lipodystrophy

    Severe dyslipideaemia, hepatomegaly and non-alcoholic steatoheaptitis are almost always noted.[dnatesting.uchicago.edu] Affected individuals may have a round face similar to individuals with Cushing’s syndrome.[rarediseases.org] Other uncommon manifestations include hypertrophic cardiomyopathy, mild mental retardation, and focal lytic lesions in the appendicular bones after puberty [ 41 , 42 ].[intechopen.com]

  • Congenital Muscular Dystrophy

    Additional features include moderate hepatomegaly and macroglossia.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations within the FKRP gene can result in CMD associated with mental retardation and cerebellar cysts.[ncbi.nlm.nih.gov] This 17-year-old girl presented with congenital muscular dystrophy, profound mental retardation, white matter changes and subtle structural abnormalities on brain MRI.[ncbi.nlm.nih.gov]

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[elsevier.es] Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity[icd10data.com] Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov]

  • Aarskog-Scott 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] 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] His mother had minor abnormalities of the hands and feet, and slight mental retardation.[ncbi.nlm.nih.gov]

  • Neuhauser Syndrome

    […] cholestasis - hyperandrogenism: polycystic ovary syndrome, gynecomastia, macropenis or hypertophy of the clitoris - excessive growth of some organs: hypertrophic cardiomyopathy, hepatomegaly[sites.uclouvain.be] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Megalocornea and mental retardation syndrome. Am J Med Genet 1988;29:221-223. [ Links ] 4. Gronbech-Jensen M. Megalocornea and mental retardation syndrome: a new case.[scielo.br]

  • 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] 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] Clinically, the patient presented with mild mental retardation and minor physical anomalies.[ncbi.nlm.nih.gov]

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