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1,587 Possible Causes for Cognitive Developmental Delay, High Pitched Voice, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] 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] pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov]

  • Dubowitz Syndrome

    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] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] 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]

  • Wiedemann-Rautenstrauch Syndrome

    Infants may have dysphonic, horse cry and older children may have an unusual high-pitched voice.[rarediseases.org] […] physical traits including: A bigger head Large eyes A small lower jaw A thin nose with a "beaked" tip Ears that stick out Veins you can see Slow and abnormal tooth growth A high-pitched[webmd.com] voice Loss of body fat and muscle Hair loss, including eyelashes and eyebrows As children with progeria get older, they get diseases you'd expect to see in people age 50[webmd.com]

    Missing: Wide Space Between the First and Second Toe
  • Early Infantile Epileptic Encephalopathy Type 2

    Patients with a SYNGAP1 mutation have a developmental delay, cognitive regression and some patients have a autism.[molgen.ua.ac.be] pitched voice Dysostosis multiplex Tracheal stenosis Lack of skin elasticity Right ventricular hypertrophy Mitral stenosis Thickened helices Hypoplasia of the capital femoral[mendelian.co] developmental delay and intellectual disability.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Early Infantile Epileptic Encephalopathy Type 6

    Disease onset occurs in the first year of life, followed by developmental delay with cognitive and behavioral dysfunction and substantially elevated risk of premature death[ncbi.nlm.nih.gov] Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears.[ghr.nlm.nih.gov] delay or cognitive outcome did not differ between both groups.[pediatricneurologybriefs.com]

    Missing: Wide Space Between the First and Second Toe
  • Bloom Syndrome

    […] pediatrician: Evaluates cognitive delay and behavior abnormalities (individuals with WAGR) Ophthalmologist: Manages aniridia (individuals with WAGR) Regular check-ups Children[chop.edu] Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Wide Space Between the First and Second Toe
  • Helsmoortel-van der Aa Syndrome

    To identify most (if not all) conditions with ID, we searched for entries with either “mental retardation” or “developmental delay”, “intellectual disability”, and “cognitive[f1000research.com] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com] , behavioral problems, or developmental delay.[eyewiki.aao.org]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome Type 2

    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] pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov]

    Missing: Cognitive Developmental Delay
  • Russell-Silver Syndrome

    Children with RSS have an increased risk for developmental delay (both motor and cognitive) and learning disabilities.[gemssforschools.org] pitched voice 0001620 Insulin resistance Body fails to respond to insulin 0000855 Lower limb asymmetry Left and right leg differ in length or width 0100559 Low-set, posteriorly[rarediseases.info.nih.gov] Furthermore, these developmental deficits and/or delays may contribute towards an emerging clinical presentation of a progressively depressed individual with RSS.[omicsonline.org]

  • Opitz-Kaveggia Syndrome

    Opitz and Kaveggia [Opitz and Kaveggia (1974); Z Kinderheilk 117:1-18] reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia. Risheg et al. [Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in[…][ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

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