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158 Possible Causes for Dysmorphic Face, High Pitched Voice

  • 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] , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] 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]

  • Mulibrey Nanism Syndrome

    161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively large in relation to body Intrauterine growth deficiency Performance High-pitched[datagenno.com] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[neuromuscular.wustl.edu] The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal.[academic.oup.com]

  • 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] A dysmorphic face with a receding chin and a relatively big nose could also render mask ventilation difficult. [11] Dental malocclusion, receding chin, high palatal arch could[joacp.org] A 1-day-old female newborn was admitted with dysmorphic features and feeding difficulties. The parents were consanguineous.[pediatricneurologybriefs.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] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov] Her voice is light and high-pitched.[riverfronttimes.com]

  • Fragile X Syndrome

    […] arched palate, and a high-pitched voice.[accessanesthesiology.mhmedical.com] Dysmorphic findings in persons with fragile X syndrome include an elongated face, prominent jaw, and large ears.[aafp.org] […] macrocephaly, a long face with prognathism (which in fact is often just a prominent symphysis of the mandibula rather than real prognathism), strabismus, prominent large ears, high[accessanesthesiology.mhmedical.com]

  • Klinefelter Syndrome

    Sterility (inability to produce live sperm) Overweight Level of activity and endurance lower than others their age Restless sleep patterns, but hard to awake in the morning High-pitched[xxyaware.blogspot.com] […] feet and face, low birth weight and genetic study with e 48 XXYY karyotype.[actapediatrica.com] In severe cases, t hey have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair.[anthro.palomar.edu]

  • 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] The photographs show how development of a rounder face in females and jaw growth in males lessens the dysmorphic features with age.[jmg.bmj.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]

  • Schwartz-Jampel Syndrome

    pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability ; Joint contracture of the hand ; Kyphoscoliosis ; Long eyelashes in irregular[mousephenotype.org] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[whonamedit.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 siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.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]

  • Hanhart Dwarfism

    , high; pitched voice SKELETAL DISORDERS pituitary dwarfism III Page 1 of 2 Copyright V.[studyres.com] Cyclopia Cyclops hypognathus Cylindrical embryo Danon disease De Lange syndrome Deafness-dystonia-optic neuronopathy syndrome Derencephalus Diaphragmatic hernia, abnormal face[icdlist.com] Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism[sosu.us]

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