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164 Possible Causes for Enlargement of the Spleen, Mental Retardation, Round Face

  • Mucopolysaccharidosis

    […] tongue), corneal clouding, hearing loss, heart problems, an enlarged liver and spleen, hernias, chronic nasal congestion and ear infections.[luriechildrens.org] 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] […] liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia).[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 2

    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] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    […] liver and spleen Hernia (inguinal or umbilical) Hearing loss Delayed mental development Coarse facial features Communicating hydrocephalus (fluid on the brain) Abnormally[mps1disease.com] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am] […] liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia).[ghr.nlm.nih.gov]

  • Chromosome 18p Deletion Syndrome

    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] Abstract Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum[ncbi.nlm.nih.gov]

  • Aarskog Syndrome

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

  • Zellweger Syndrome

    […] liver or spleen; and liver disease from an unknown cause. 2,7,8,9 It is important to diagnose and treat BASD as early as possible, since untreated patients may develop serious[retrophin.com] 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]

  • Autosomal Recessive Spastic Paraplegia Type 49

    Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 29 Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skinanomalies Mental Retardation[familydiagnosis.com] Glycogen Storage Disease, Type 4 often causes symptoms in infancy with poor feeding and growth (failure to thrive), an enlarged liver and spleen, enlarged heart, low muscle[natera.com] retardation, pes cavus, thin CC SPG14 ( Vazza et al ., 2000 ) 3q27–q28 – Complex 30 No Yes Pes cavus, mental retardation, visual agnosia, memory deficiency SPG15 ( Hughes[academic.oup.com]

  • Cockayne Syndrome

    Elevated liver function tests, enlargement of liver or spleen Death typically occurs in the first or second decade.[ncbi.nlm.nih.gov] 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]

  • Tryptophanemia

    Familial Renal iminoglycinuria (Mental retardation, deafness, blindness, kidney stones, hypertension) Hyperhydroxyprolinemia (Mental retardation) Iminoglycinuria (Mental retardation[genetics-tests.com] Test Code: 14614(X) Clinical Use: Diagnose Cri du chat syndrome Individuals Suitable for Testing: Those with cat-like cry, severe psychomotor dysfunction, microencephaly, round[questdiagnostics.com] 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]

  • Cerebro-Facio-Thoracic Dysplasia

    […] liver and spleen, mild to moderate mental retardation in 80%, macrocephaly, sparse, curly and/or slow-growing hair, lack of eyebrows and eyelashes, abnormal skin lesions[en.wikibooks.org] Wieczorek Dagmar - - 2003 We describe an 8.5-year-old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned[biomedsearch.com] We report another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome) characterized by mental retardation and characteristic facies: narrow forehead, synophris[ncbi.nlm.nih.gov]

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