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69 Possible Causes for High Pitched Voice, Mental Retardation (25%), Short Stature

Did you mean: High Pitched Voice, Mental Retardation (25, ), Short Stature

  • Dubowitz Syndrome

    Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly, mild mental retardation[wikidata.org] […] terms Syndromes with CLP 19 terms Boys (and some girls) with Mental Retardation[quizlet.com] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    stature and skeletal dysplasia.[ncbi.nlm.nih.gov] The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described.[ncbi.nlm.nih.gov] Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[whonamedit.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated[ncbi.nlm.nih.gov] All children have marked intrauterine and postnatal growth failure, microcephaly, and mental and statomotor retardation.[eurekamag.com] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com]

  • Baraitser Syndrome

    As a result of prenatal and postnatal growth retardation, most of these patients have a short stature.[ijpd.in] Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3. Pallotta R.[ghr.nlm.nih.gov] Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3.[disorders.eyes.arizona.edu]

  • Rothmund Thomson Syndrome

    Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands.[ncbi.nlm.nih.gov] Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation.[ncbi.nlm.nih.gov] Development of erythema with cafe-au-lait spots and not pokiloderma, slender built, narrow delicate face, prominent nose and high-pitched voice in Bloom's syndrome are essential[idoj.in]

  • Hypogonadotropic Hypogonadism

    Aged 17 years, the boy was referred because of short stature (162 cm) and overweight (62.5 kg).[ncbi.nlm.nih.gov] Consequence of missing the diagnosis Early studies of KS revealed an increased risk of psychiatric disturbances, criminal behavior, and mental retardation ( 25 – 27 ), but[doi.org] Affected males may maintain their high-pitched voice; the physiological pubertal breaking of the voice may not occur.[symptoma.com]

  • Opitz-Kaveggia Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] The MED12 protein is a program with more than 25 subunits and this is the first report associating a Mediator subunit with mental retardation.[thyroidmanager.org] Patients show a distinctive facial appearance, a tall and prominent forehead, short stature, small prominente ears with simplified helical pattern, frontal hair upsweep, hypotonia[scielo.mec.pt]

  • Seckel Syndrome

    Seckel syndrome is an autosomal recessive condition with severe short stature and facial and neurological anomalies.[ncbi.nlm.nih.gov] […] protrusion, and severe mental retardation.[ncbi.nlm.nih.gov] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

  • Seckel Syndrome

    stature and abnormally small arms and legs (short-limbed dwarfism).[rarediseases.org] ., et al: Bilateral central macrogyria: Epilepsy, pseudobulbar palsy and mental retardation: A recognizable neuronal migration disorder. Ann Neurol 1989 ; 25: 547 - 554.[journals.sagepub.com] Get Update Overview Seckel syndrome is a genetic disorder characterized by growth retardation, microcephaly with mental retardation, and unique facial features such as large[resourcerepository.org]

  • Autosomal Dominant Mental Retardation 21

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998 ; 20 : 25 –30. D’Adamo P , Gulisano M, Oostra BA, et al.[jmg.bmj.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]

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