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100 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] Reddened areas can also be seen on other areas which are exposed to the sun, such has hands. a high pitched voice changes in the shape of the face, such as a long face and[medic8.com]

  • 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] The studies enrolled a total of 71 children suffering from extreme short stature; all children exhibited symptoms of Primary IGFD, including slow growth rates, low IGF-1 serum[centerwatch.com] 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]

  • Werner Syndrome

    The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts.[ncbi.nlm.nih.gov] His characteristic medical history and physical findings, i.e. bilateral cataracts, short stature, baldness, diabetes mellitus, high-pitched voice, and multiple malignancies[ncbi.nlm.nih.gov] Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal[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] Today people all over the world can recognize the classic look of a child with progeria: narrow, wrinkled face; baldness, including lack of eyebrows and eyelashes; short stature[news.nationalgeographic.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] They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.[rarediseases.org]

  • Schwartz-Jampel Syndrome

    Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[whonamedit.com] stature and skeletal dysplasia.[ncbi.nlm.nih.gov] […] palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[rarediseases.info.nih.gov]

  • Pituitary Dwarfism

    Because the structure of the infant’s larynx, high-pitched voice in present also in adults.[doctortipster.com] […] of short stature from 14 countries.[ncbi.nlm.nih.gov] They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.[rarediseases.org]

  • 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] Russell-Silver syndrome (RSS) is characterized by slow growth both in utero and after birth, short stature, and specific facial features.[gemssforschools.org] […] 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]

  • Seckel Syndrome

    She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] 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] 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]

  • Gaucher Disease

    […] result in feeding difficulties; abnormal positioning or bending of the neck (retroflexion); and failure to gain weight and grow at the expected rate (failure to thrive) and high-pitched[rarediseases.org] Children with massive splenomegaly may be short in stature because of the energy expenditure required by the enlarged organ.[emedicine.medscape.com] […] breathing (stridor) due to contraction of the muscles of the voice box (laryngeal spasm).[rarediseases.org]

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