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735 Possible Causes for Macrocephaly, Round Face, Seizure

  • Mucopolysaccharidosis 2

    […] 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] In addition, both had features not commonly seen in this disorder, e.g. early onset of seizures in one patient and ptosis in the other.[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

    However, a clear association between EEG, CNS and the history of seizures was not established.[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]

  • Neuhauser Syndrome

    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] Generalized seizures affecting one side of the body started again; between these seizures, the patient had absence seizures and atonia of the left hemibody.[scielo.br] We report two sisters with Neuhäuser [megalocornea, macrocephaly, mental and motor retardation MMMM] syndrome.[ncbi.nlm.nih.gov]

  • Trisomy 12p

    Affected patients present Greek helmet face, growth and mental retardation, hypotonia, and seizures.[moh-it.pure.elsevier.com] Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[rarediseases.info.nih.gov] The infant could not sit or crawl at nine months and was hospitalized for seizures at ten months.[ashg.org]

  • Pseudohypoparathyroidism

    The condition causes short stature, round face, obesity, developmental delay, and short hand bones.[nlm.nih.gov] Abstract We describe a patient who presented with epileptic seizures unresponsive to anticonvulsive treatment.[ncbi.nlm.nih.gov] Obesity, particularly early-onset obesity, and macrocephaly relative to height might be part of AHO 26, 27, 28.[doi.org]

  • Congenital Muscular Dystrophy

    The aim of our study was to evaluate the incidence of seizure in CMD.[ncbi.nlm.nih.gov] Severe scoliosis, macrocephaly, and nonambulatory status were common in LAMA2. Increasing age was associated with poor respiratory function in COL6A.[ncbi.nlm.nih.gov] Macrocephaly may be noted.[symptoma.com]

  • Zellweger Syndrome

    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] Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations.[ncbi.nlm.nih.gov] Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net]

  • Mucopolysaccharidosis 1

    […] syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial dysfunctions syndrome Multiple[se-atlas.de] 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]

  • Sotos Syndrome

    Infants have a round face with prominent forehead and small chin.[encyclopedia.com] Temporal lobe seizures were recorded in 40% of patients with SS. Seizures were easy to control with common antiepileptic drugs in almost all patients.[ncbi.nlm.nih.gov] Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly.[ncbi.nlm.nih.gov]

  • Aarskog-Scott Syndrome

    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] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.org] 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]

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