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155 Possible Causes for High Pitched Voice, Short Stature in Children

  • Bloom Syndrome

    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] People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose.[diseaseinfosearch.org] pitched voice The life expectancy is 1 to 48 years with a mean of 23 years of age. the average height for an adult male is 4'9" and the average height for an adult female[prezi.com]

  • Schwartz-Jampel Syndrome

    pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability ; Joint contracture of the hand ; Kyphoscoliosis ; Long eyelashes in irregular[mousephenotype.org] stature and skeletal dysplasia.[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]

  • SHORT Syndrome

    She had a high pitched voice, lipodystrophy (particularly in facies, trunk and upper extremities), triangular facies, mild prominent forehead, deep-set eyes, prominent nose[questia.com] Short Stature in Children Symptoms Short parents tend to have short children.[emedicinehealth.com] Her voice is light and high-pitched.[riverfronttimes.com]

  • Growth Hormone Deficiency

    High pitched voice • Low threshold for hypoglycemia 17.[slideshare.net] Short stature is one of the clinical manifestations in these children.[ncbi.nlm.nih.gov] This can result in noticeably short stature in children.[childrenshospital.org]

  • Seckel Syndrome

    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] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed.[ncbi.nlm.nih.gov] The Seckel syndrome or "bird-headed" dwarfism associates a severe short stature, mental deficiency and various malformations with characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Pituitary Dwarfism

    Because the structure of the infant’s larynx, high-pitched voice in present also in adults.[doctortipster.com] We report here the results obtained with a new test of prolactin (PRL) release in six normal pre-pubertal boys, eleven children with short stature of non-pituitary origin[ncbi.nlm.nih.gov] The voice is characteristically high-pitched.[rarediseases.org]

  • Laron Syndrome

    Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature[ncbi.nlm.nih.gov] Recent data have indicated that partial GH receptor deficiency could be involved in children with apparently idiopathic short stature.[ncbi.nlm.nih.gov] They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH[ncbi.nlm.nih.gov]

  • Russell-Silver Syndrome

    pitched voice 0001620 Insulin resistance 0000855 Lower limb asymmetry 0100559 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower[rarediseases.info.nih.gov] Ackland FM, Stanhope R, Eyre C, Hamill G, Jones J, Preece MA: Physiological growth hormone secretion in children with short stature and intrauterine growth retardation.[karger.com] […] palate · small, crowded teeth · low-set, posteriorly rotated &/or prominent ears · unusually, high-pitched voice in early years · clinodactly (inward curving) of the 5th[coltongeorge.com]

  • Osteogenesis Imperfecta

    pitched voice May perspire excessively [4] "Mild to moderate skeletal fragility and osteoporosis Associated bowing of long bones Bones fracture easily before puberty; some[physio-pedia.com] Despite numerous fractures, restricted activity, and short stature, most adults and children with OI lead productive and successful lives.[checkorphan.org] Muscle mass is decreased in OI, even when short stature is taken into account.[ncbi.nlm.nih.gov]

  • Progeria

    […] atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked nose and high-pitched[ncbi.nlm.nih.gov] The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose;[ncbi.nlm.nih.gov] Profound, progressive growth retardation usually becomes evident by approximately 24 months of age, resulting in short stature and weight that remains extremely low for height[rarediseases.org]

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