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2,958 Possible Causes for Microcephaly

  • West Syndrome

    A mutation in ARFGEF2 has been previously described only once, causing microcephaly and periventricular heterotopia.[] The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs.[] […] tetrasomy) of chromosome 17q25.3 in a 10-year-old girl with severe intellectual disability, infantile seizures (West syndrome), moderate hearing loss, Dandy-Walker malformation, microcephaly[]

  • Growth Hormone Deficiency

    […] characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly[] […] to intracranial lesions (anosmia or visual deficits) are findings that require exclusion of GHD as the underlying cause, while neonatal signs include prolonged jaundice, microcephaly[]

  • Cytomegalovirus Infection

    Typical ultrasound signs that should arouse suspicion of intrauterine CMV infection can be distinguished into CNS signs such as ventriculomegaly or microcephaly and extracerebral[] Possible signs and symptoms include: jaundice / hepatomegaly / splenomegaly microcephaly sensorineural deafness chorioretinitis petechiae mental retardation seizures The degree[] Common symptomatic characteristics of the virus include microcephaly, jaundice, liver-spleen infections, pneumonia, cardiac anomalies, chorioretinitis, vision loss, sensory-neural[]

  • Neuronal Ceroid Lipofuscinosis

    A 7 years-old female patient with normal development until the age 12 months, developed Rett like clinical picture (psychomotor regression, microcephaly, stereotypic hands[] Patients suffering from congenital NCL may present with microcephaly at birth. In general, the sequence of onset of symptoms may vary from patient to patient.[] In affected children, brain cells die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head ( microcephaly ).[]

  • Congenital Muscular Dystrophy

    In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[] […] report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly[] We describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine[]

  • Congenital Toxoplasmosis

    The main neuroimaging findings of congenital CMV infection included microcephaly, ventriculomegaly, and periventricular calcifications on US, as well as pachygyria revealed[] We present a female neonate in her second week of life with borderline microcephaly, microphthalmia and progressive ascending sensory and motor deficit leading to complete[] Affected neonates are likely to feature microcephaly or macrocephaly accompanied by bulging fontanelles and abnormal ophthalmologic findings.[]

  • Phenylketonuria

    None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis.[] The offspring of mothers with untreated or poorly controlled phenylketonuria (PKU) (McKusick 261600) are at risk of having congenital anomalies including microcephaly, congenital[] Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental retardation, heart problems, small head size (microcephaly[]

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[] […] have microcephaly.[] […] syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in cognitive functioning, short stature, relatively small[]

  • Patau Syndrome

    It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[] head ( microcephaly ) Undescended testes Babies born with trisomy 13 can have many health problems, and more than 80% don’t survive more than a few weeks.[] […] trisomies Human chromosome 13 Syndromes with cleft lip and/or palate Syndromes affecting the nervous system Syndromes with dysmelia Syndromes affecting the heart Syndromes with microcephaly[]

  • CHARGE Syndrome

    […] syndrome 759.89 Cerebrohepatorenal syndrome 759.89 CGF (congenital generalized fibromatosis) 759.89 CHARGE association (syndrome) 759.89 Cockayne's disease or syndrome (microcephaly[] […] congenital) 743.10 syndrome 759.89 Mieten's syndrome 759.89 Mohr's syndrome (types I and II) 759.89 Myofibromatosis infantile 759.89 Negri bodies 071 Neill-Dingwall syndrome (microcephaly[] […] disabilities, and brachycephaly) 759.89 Disease, diseased - see also Syndrome Bruck-de Lange (Amsterdam dwarf, intellectual disabilities, and brachycephaly) 759.89 Cockayne's (microcephaly[]

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