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14 Possible Causes for Down Syndrome, Profound Psychomotor Developmental Delay

  • Mental Retardation

    What is Down syndrome?[chw.org] Three siblings in a consanguineous Pakistani family presented with profound developmental delay, severe ID, no speech, psychomotor delay, and postnatal microcephaly.[ncbi.nlm.nih.gov] Mortality rates at an early age have been found to be higher in children suffering from Down syndrome.[symptoma.com]

  • Trisomy 8q

    The most well-know is Down Syndrome, which is caused by having an extra copy of chromosome 21.[dnalc.org] Psychomotor retardation is always severe-to-profound.[lirias.kuleuven.be] Chromosomal abnormalities, not elsewhere classified (Q90-Q99) Q90 Down's syndrome Q90.0 Trisomy 21, meiotic nondisjunction Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction[apps.who.int]

  • Horseshoe Kidney

    : chromosomal/aneupliodic anomalies Down syndrome Turner syndrome : up to 7% have a horseshoe kidney Edwards syndrome (trisomy 18): up to 20% have a horseshoe kidney Patau[radiopaedia.org] Developmental and behavior In older children with trisomy 18 significant developmental delay is always present ranging from a marked to profound degree of psychomotor and[doi.org] : 67% Turner Syndrome: 14-20% Down Syndrome: 1% Mel Gibson is affected with this condition.[en.wikipedia.org]

  • Isolated Congenital Auditory Ossicle Malformation

    syndrome.[patient.info] Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] Behavioral features of CHARGE syndrome (Hall-Hittner syndrome): comparison with Down syndrome, Prader-Willi syndrome and Williams syndrome.[rarediseases.org]

  • ANE Syndrome

    A&E will air six hour-long episodes of “Born This Way,” which follows seven young adults with Down syndrome.[disabilityscoop.com] Multiple congenital malformations including developmental delay, brain malformations, skeletal anomalies, and facial deformities are ...[kegg.jp] The Down syndrome community has always been caught between the freak and the angel.[america.aljazeera.com]

  • Thyro-Cerebro-Renal Syndrome

    Patients with Down syndrome present relatively often with congenital urogenital disorders.[sjkdt.org] ., sitting up, crawling, walking, and other developmental milestones) and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity[rarediseases.org] Ram G, Chinen J : Infections and immunodeficiency in Down syndrome. Clin Exp Immunol 164 : 9–16, 2011 39.[jkns.or.kr]

  • Hyperphosphatasia with Mental Retardation Syndrome 4

    Down syndrome (DS) is the most common chromosome abnormality among liveborn infants.[jusadventures.com] Definition An autosomal recessive neurologic disorder characterized by profound developmental delay, severe mental retardation, no speech, psychomotor delay, postnatal microcephaly[uniprot.org] Downs Syndrome Dravet Syndrome Dyskeratosis congenita (Male embryos only) Dystonia 1 Torsion Autosomal Dominant (DYT1) Ectodermal dysplasia (Hypohidrotic) Ectrodactyly, Ectodermal[healthlawcentral.com]

  • Mirhosseini-Holmes-Walton Syndrome

    […] heritage with Downs Syndrome.[wikivisually.com] delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[findzebra.com] Syndrome ; Brain Diseases, Metabolic, Inborn ; Cockayne Syndrome ; Congenital Hypothyroidism ; Cri-du-Chat Syndrome ; De Lange Syndrome ; Down Syndrome ; Laurence-Moon Syndrome[reference.md]

  • Non-Eruption of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome

    Details, Oro-facial-digital syndrome type 1, Sturge- Weber syndrome More Details More Details, Down syndrome, Ehlers-Danlos syndrome More Details, Apert syndrome, Crouzon[drjjournal.net] delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia[ncbi.nlm.nih.gov] Many genetic syndromes are associated with short stature, including Down and Turner syndromes.[musculoskeletalkey.com]

  • Ectodermal Dysplasia-Sensorineural Deafness Syndrome

    Trisomy 21, or Down syndrome, is the most common chromosomal disorder in the world.[emedicine.medscape.com] Mental and psychomotor developmental delay was noted. Figure 1 The proband aged 18 months. (A, B) Note facial dysmorphism (see text). (C) He cannot stand unsupported.[jmg.bmj.com] […] adenomatous polyposis Acute fatty liver of pregnancy Acute megakaryoblastic leukemia without Down syndrome Adult-onset autosomal dominant leukodystrophy Aicardi-Goutières[csbg.cnb.csic.es]

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