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418 Possible Causes for Brachycephaly, Dementia, Microcephaly

  • Down Syndrome

    RESULTS: Microarray detected an intragenic microdeletion of DYRK1A in an individual with microcephaly and autism.[] […] features Chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21; clinical manifestations include hypotonia, short stature, brachycephaly[] Alzheimer's dementia (AD) is the most common form of dementia in people with Down Syndrome [DS].[]

  • Kaufman Oculocerebrofacial Syndrome

    Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of[] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[] These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies[]

  • Renpenning Syndrome 1

    In addition, we identified another family exhibiting microcephaly and MR ( fig. 1 B ).[] Sutherland-Haan syndrome has been associated with mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes, and possibly intrauterine[] Behaviors associated with dementia: whether resisting care or exhibiting apathy, an older adult with dementia is attempting communication.[]

  • Scott Bryant Graham Syndrome

    Microcephaly sparse hair mental retardation seizures 0 *Alopecia *Intellectual Disability *Microcephaly *Seizures.[] Related phenotypes are brachycephaly and micrognathia[] A patient with rapidly progressing early-onset dementia and insomnia. J Clin Sleep Med . 2017;13(11):1363-1364.[]

  • Cerebro-Facio-Thoracic Dysplasia

    Psychosocial assessment Physical exam Macro/microcephaly? Height and weight?[] […] characteristic facies: narrow forehead, synophris, hypertelorism, broad nasal bridge, long philtrum, micrognathia, triangular-shaped mouth and low posterior hairline, and also brachycephaly[] 5 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 4 Frontotemporal Dementia, Ubiquitin-Positive[]

  • Oculo-Palato-Cerebral Syndrome

    Related phenotypes are cleft palate and microcephaly[] ) 759.89 Disease, diseased - see also Syndrome Bruck-de Lange (Amsterdam dwarf, intellectual disabilities, and brachycephaly) 759.89 Cockayne's (microcephaly and dwarfism)[] Frontotemporal dementia Frontotemporal dementia with motor neuron disease Frontotemporal dementia, right temporal atrophy variant Frontotemporal neurodegeneration with movement[]

  • Idiopathic Childhood-Onset Basal Ganglia Calcification

    Keywords: Infantile encephalopathy, microcephaly, basal ganglia calcifications, leukodystrophy, CSF lymphocytosis DOI: 10.3233/JPN-2010-0420 Journal: Journal of Pediatric[] Inappropriate behavior Bradykinesia Progressive cerebellar ataxia Torticollis Hyperactive deep tendon reflexes Cerebral cortical atrophy Hemiplegia/hemiparesis Pneumonia Brachycephaly[] Also, the typical presentation of so-called childhood-onset Huntington’s disease, characterized by rigidity instead of chorea, cerebellar signs, and rapidly progressive dementia[]

  • Isolated Brachycephaly

    PMID: 16826526 A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.[] We did not observe any significant alteration of FM in patients with isolated brachycephaly compared to control group.[] […] pugilistica Dementia with Lewy body Dentatorubral pallidoluysian atrophy Dentinogenesis imperfecta Denys-Drash syndrome Dermatomyositis Desminopathy Developmental anomaly[]

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[] COMP het c.1279_1291del AD Multiple epiphyseal dysplasia (32400) 33 BBS1 homo c.1169T G (p.M390R) AR Bardet–Biedl syndrome (209900) Abnormal behavior, abnormal nasal base, brachycephaly[] […] deficit, disorientation, language disturbance) or the development of a perceptual disturbance that is not better accounted for by a preexisting, established, or evolving dementia[]

  • Cockayne Syndrome

    ICD-9-CM Volume 2 Index entries containing back-references to 759.8 : Syndrome - see also Disease Cornelia de Lange's (Amsterdam dwarf, intellectual disabilities, and brachycephaly[] Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.[] A pair of sibs is reported with severe growth retardation since infancy, lack of subcutaneous fat, aged appearance, severe mental retardation with possibly a progressive dementia[]

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