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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.[ncbi.nlm.nih.gov] […] features Chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21; clinical manifestations include hypotonia, short stature, brachycephaly[icd9data.com] Alzheimer's dementia (AD) is the most common form of dementia in people with Down Syndrome [DS].[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

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

  • Renpenning Syndrome 1

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

  • Scott Bryant Graham Syndrome

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

  • Cerebro-Facio-Thoracic Dysplasia

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

  • Oculo-Palato-Cerebral Syndrome

    Related phenotypes are cleft palate and microcephaly[malacards.org] ) 759.89 Disease, diseased - see also Syndrome Bruck-de Lange (Amsterdam dwarf, intellectual disabilities, and brachycephaly) 759.89 Cockayne's (microcephaly and dwarfism)[icd9data.com] Frontotemporal dementia Frontotemporal dementia with motor neuron disease Frontotemporal dementia, right temporal atrophy variant Frontotemporal neurodegeneration with movement[se-atlas.de]

  • 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[content.iospress.com] Inappropriate behavior Bradykinesia Progressive cerebellar ataxia Torticollis Hyperactive deep tendon reflexes Cerebral cortical atrophy Hemiplegia/hemiparesis Pneumonia Brachycephaly[mendelian.co] Also, the typical presentation of so-called childhood-onset Huntington’s disease, characterized by rigidity instead of chorea, cerebellar signs, and rapidly progressive dementia[checkorphan.org]

  • Isolated Brachycephaly

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

  • Hypotonia-Failure to Thrive-Microcephaly Syndrome

    […] rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.[orpha.net] 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[nature.com] […] deficit, disorientation, language disturbance) or the development of a perceptual disturbance that is not better accounted for by a preexisting, established, or evolving dementia[books.google.com]

  • 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[icd9data.com] Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration.[ncbi.nlm.nih.gov] 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[karger.com]

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