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36 Possible Causes for Hepatomegaly, Microcephaly (2-3 SD)

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  • TORCH Syndrome

    On the contrary, findings resembling congenital infectious diseases including neonatal icterus, hyperbilirubinemia, thrombocytopenia, and hepatomegaly, affect less than half[ncbi.nlm.nih.gov] The principal neuroimaging findings in CZS include microcephaly (ie, head circumference 2-3 SD less than mean at a given age), brain parenchymal calcifications (mostly punctate[doi.org] Cytomegalic inclusion disease can include hepatomegaly, splenomegaly, paraventricular calcification, and intrauterine growth retardation.[ncbi.nlm.nih.gov]

  • Pseudo-Zellweger Syndrome

    An enlarged liver (hepatomegaly) occurs in about half of affected individuals.[ghr.nlm.nih.gov] PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] […] cerebral periventricular pseudocysts 3 Musculoskeletal Plain radiograph scimitar-like patella calcification 2 Abdominal Antenatal ultrasound hyperechoic kidneys may demonstrate hepatomegaly[radiopaedia.org]

  • Methylmalonic Aciduria Type cblA

    ; Decreased methylmalonyl-CoA mutase activity ; Dehydration ; Failure to thrive ; Feeding difficulties in infancy ; Generalized hypotonia ; Global developmental delay ; Hepatomegaly[mousephenotype.org] Mild microcephaly was quite common, but head circumference was not significantly different between subgroups (Kruskal-Wallis rank sum test χ 2 [3] 2.40, p 0.49).[nature.com] [ more ] 0001508 Feeding difficulties in infancy 0008872 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 Hepatomegaly[rarediseases.info.nih.gov]

  • Amish Lethal Microcephaly

    They may also have an unusually small lower jaw and chin (micrognathia) and an enlarged liver (hepatomegaly).[ghr.nlm.nih.gov] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] 10 fetal movements in 12 hours 0001558 Decreased skull ossification Decreased bone formation of skull 0004331 Generalized tonic-clonic seizures Grand mal seizures 0002069 Hepatomegaly[rarediseases.info.nih.gov]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Hepatomegaly, splenomegaly or hepatosplenomegaly is common.[autoinflammatory-search.org] Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity.[pediatriceducation.org] . Incidence of moderate to severe mental retardation  HC from 2-3 SD below the age is 33%.  HC 3 SD, incidence is 62% Not always associated with mental retardation 5.[slideshare.net]

  • Autosomal Dominant Mental Retardation Type 21

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] Olivopontocerebellar atrophy Abnormality of the liver Generalized limb muscle atrophy Distal sensory impairment Orofacial dyskinesia Splenomegaly Talipes equinovarus Fever Hepatomegaly[mendelian.co]

  • Malpuech Syndrome

    Refsum disease with increased pipecolic acidemia 0 *Hepatomegaly *Refsum Disease Developmental Disabilities Pipecolic Acids/urine.[reference.md] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com] Symptoms INHERITANCE: Autosomal recessive GROWTH: [Other]; Poor growth (1 patient) HEAD AND NECK: [Head]; Microcephaly (-2 to -3 SD) (in some patients); [Ears]; Large fleshy[findzebra.com]

  • Kaufman Oculocerebrofacial Syndrome

    […] of cardiovascular system morphology Broad nasal tip Hiatus hernia Aplasia/Hypoplasia of the cerebellar vermis Prominent forehead Facial hypotonia Prominent metopic ridge Hepatomegaly[mendelian.co] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present.[findzebra.com]

  • Helsmoortel-van der Aa Syndrome

    The symptoms that are typically caused by mass effects are hepatomegaly and portal hypertension, ascites, jaundice, hemorrhage, dyspnea, early satiety and weight loss, gastro-oesophageal[ncbi.nlm.nih.gov] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] […] acid dehydrogenase disorders Long/Very Long Chain Acyl CoA Dehydrogenase deficiency (LCAD/VLCAD) Long Chain Hydroxy Acyl CoA Dehydrogenase deficiency (LCHAD) hypoglycemia, hepatomegaly[intechopen.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] revealed signs of early puberty (Tanner stage A1, P2, B2), pronounced acanthosis nigricans in the nuchal regions and axillae, centripetal fat distribution, and 2–3 cm palpable hepatomegaly[diabetes.diabetesjournals.org] He started walking at 3 years, speaking with single words at 2 years, and he cannot make sentences yet.[jcrpe.org] On physical examination, height was 86 cm (-8.9 SDS), weight 8.4 kg (-7.9 SDS), BMI 11.4 kg/m2 (-5.6 SDS), and head circumference was 37.7 cm (-9.1 SDS).[jcrpe.org]

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