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422 Possible Causes for Hepatomegaly, Macrocephaly, 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] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis

    The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development.[ncbi.nlm.nih.gov] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[icd9data.com]

  • 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] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during[icd10data.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] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • 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] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Mulibrey Nanism Syndrome

    Hepatomegaly is yet another important presenting feature of Mulibrey Nanism.[epainassist.com] face, frontal bossing and short broad neck with prominent trapezius muscles, tall vertebral bodies, and hip dislocation (Figure 1 c).[ijponline.biomedcentral.com] […] aged 3 years, was suspected to have Silver–Russel syndrome because of intrauterine growth retardation, postnatal growth retardation, typical facial dysmorphic features, macrocephaly[moh-it.pure.elsevier.com]

  • 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] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[ncbi.nlm.nih.gov]

  • Glutaric Aciduria Type 2

    The first group of MADD-S patients are often premature presenting with severe non-ketotic hypoglycemia, hypotonia, hepatomegaly and severe metabolic acidosis within the first[orpha.net] Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction[pliem.co.za] All children with GA-I and macrocephaly (75% of the patients) are at risk for subdural hemorrhage at any age but especially during peak periods of macrocephaly (late infancy[clinicaladvisor.com]

  • Glycogen Storage Disease Type 3

    Hepatomegaly and growth retardation are other common features.[symptoma.com] On examination he had round face, his weight was 11 kg and height was 80 cm, both were less than 3rd percentile for his age.[indianpediatrics.net] He was noted to have hypotonia, macrocephaly, a coarse facial appearance, low set ears with thick lobes, downward slanting palpebral fissures, epicanthic folds, depressed[jmg.bmj.com]

  • Glycogen Storage Disease

    They were ultimately found to have hepatomegaly, fasting hypoglycemia, mild elevation of transaminases and ketosis.[ncbi.nlm.nih.gov] Patients have enlarged liver, growth retardation, osteopenia, sometimes osteoporosis, full-cheeked round face, nephromegaly and frequent epistaxis due to platelet dysfunction[orpha.net] Phenotype of macrocephaly, coarse facies similar to Hurler. Mental retardation and hydrocephalus, slower neurological deterioration than Hurler.[ceaccp.oxfordjournals.org]

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