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10 Possible Causes for High Pitched Voice, Mental Retardation, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[wikidata.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]

  • Seckel Syndrome

    She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.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]

  • 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] […] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation[centogene.com] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?[rarediseases.org]

  • Baraitser Syndrome

    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] Abstract We describe the case of a boy with moderate mental retardation associated with tall stature, obesity, macrocephaly and typical facial features, characterized by a[ncbi.nlm.nih.gov] Abstract We report on two brothers with moderate-to-severe mental retardation, severe macrocephaly, obesity, characteristic face, big hands and feet, advanced bone age and[ncbi.nlm.nih.gov]

  • Cutis Laxa

    Macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome – Notable for macrocephaly, facial dysmorphism, gingival hypertrophy, dental abnormalities, sparse hair, high-pitched[visualdx.com] While the patients with GORAB mutations have severe osteopenia, the patients with PYCR1 mutations have severe mental retardation.[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Kenny-Caffey Syndrome Type 1

    space between the first and second toes.[medcraveonline.com] pitched voice 0001620 Persistence of primary teeth Delayed loss of baby teeth Failure to lose baby teeth Retained baby teeth [ more ] 0006335 Percent of people who have these[rarediseases.info.nih.gov] Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died.[scienceopen.com]

  • Russell-Silver Syndrome

    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] At follow-up, five of the 15 patients exhibited late catch-up growth and had normal height, six had developmental delays or mental retardation, and asymmetry was present in[ncbi.nlm.nih.gov] Renal and/or ureteral defects and mental retardation may occur in some cases. Café au lait macules are present in nearly half the cases.[whonamedit.com]

  • Short Stature due to Endocrine Disorder

    Additional characteristic features, such as microcephaly, protruding forehead, saddle nose, small chin, and high-pitched voice, may raise clinical suspicion [ 212, 217 ].[karger.com] […] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth[rarediseases.info.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]

  • Mild Dysmorphic Features

    , fourth, and fifth fingers; feet held in eversion, prominent heels; wide space between the first and second toes; proximally placed fifth toes; hypotonia; increased skin[ssmc-tl.com] Knight Karger Medical and Scientific Publishers , 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[books.google.de] Kleczkowska A, Vogels A, Van den Berghe H (1989) Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter 8p23.1).[link.springer.com]

  • MORM Syndrome

    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] Her voice is still high-pitched, though now that we know what we know, it no longer seems unusually high at all. People heard what they wanted to.[buzzfeednews.com] Based on the experience of mental retardation as it presents in that population, these individuals had mild to moderate mental retardation.[nature.com]

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