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12 Possible Causes for Cognitive Developmental Delay, Short Neck, Wide Space Between the First and Second Toe

  • Down Syndrome

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] […] variants: or Down's syndrome Definition of Down syndrome : a congenital condition characterized especially by developmental delays, usually mild to moderate impairment in[merriam-webster.com]

  • Seckel Syndrome

    neck, and large prominent eyes, dwarfism in the pre, peri and post-natal, presence of microcephaly and episodes of choking.[scielo.br] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] .; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck. Oxford, England: Oxford University Press:440-80.[rarediseases.about.com]

  • Atelosteogenesis Type 2

    […] middle phalanx of finger ; Short neck ; Short sacroiliac notch ; Stillbirth ; Talipes equinovarus ; Thoracic hypoplasia Associated Genes SLC26A2 (Withdrawn symbols: DTD,[mousephenotype.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Developmental delay may be temporal or permanent; for example, in achondroplasia, motor development may be delayed in the first 2 years, due to macrocephaly and ligamentous[musculoskeletalkey.com]

  • Dubowitz Syndrome

    The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The feeding difficulties, developmental and cognitive delay, mottled skin, drug-induced long QT syndrome, short stature, microcephaly, small ears, 2–3 cutaneous syndactyly[journals.plos.org]

  • Macrocephaly-Developmental Delay Syndrome

    neck q32 qter 18056692 older sister has ventricular septal defect Edit 26 18056692_1 46,XY, der(5)t(5;7)(q35;?)[chr7.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Since the early 2000s, PTEN germline mutation haploinsufficiency has been reported in association with autism, variable cognitive impairment and developmental delay in the[consultqd.clevelandclinic.org]

  • Cutis Laxa

    neck and diastase of the abdominal muscles.[scielo.br] Despite delays in developmental milestones and language, affected children are said to be cheerful and outgoing. Neurologic findings Cognitive.[ncbi.nlm.nih.gov] From a critical point of view, we noticed that the correction was not optimal in the neck and submental area, and we have recommended further surgery focused on that area.[clinmedjournals.org]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] nose; Upturned nasal tip; [Mouth]; Large, carp-shaped mouth; [Neck]; Short neck CARDIOVASCULAR: [Heart]; Ventricular septal defect; Atrial septal defect RESPIRATORY: Frequent[genome.jp] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] Developmental delays are common. Infancy and childhood milestones are often delayed. Many patients have cognitive delays and some are mildly retarded.[disorders.eyes.arizona.edu]

  • Genee-Wiedemann Syndrome

    The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features ( Tracy[mendelian.co] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com] Estimates have been made for individuals with specific clinical presentations such as developmental delay/cognitive disability and autism spectrum disorders; in these phenotypes[nature.com]

  • Trisomy 10p

    Although the translocation also results in monosomy for Xq21-qter, she does not have any major stigmata of Turner’s syndrome, except for a short neck and broad chest, although[jmg.bmj.com] The last physical examinationwas at 12months of age and a global developmental delay was established.[docslide.fr] […] nose Palpebral fissures Up-slanting Horizontal Strabismus Cleft lip/palate Micro/retrognathia Down-turned mouth Malformed ears Short/webbed neck Cardiac defect Renal defect[e-sciencecentral.org]

  • Baraitser Syndrome

    In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.[mendelian.co]

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