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89 Possible Causes for Dysmorphic Face, High Pitched Voice

  • 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] pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org]

  • 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]

  • Congenital Muscular Dystrophy

    In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] Other common features include hydrocephalus and dysmorphic face (short nasal bridge, micrognathia, and midface hypoplasia) 184 .[doi.org] A few years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia[doi.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] 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] voice.[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]

  • 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] 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] […] palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Hip contracture 0003273 Hyperlordosis Prominent swayback 0003307 Hyporeflexia[rarediseases.info.nih.gov]

  • Dubowitz Syndrome

    Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] Developmental Delay : behind schedule in reaching milestones of early childhood development Dysmorphic Face : this refers to minor facial anomalies that occur fairly frequently[ric.edu] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.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] face (bird-like), and mild to severe intellectual disability.[orpha.net] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

  • Ateliotic Dwarfism

    , high; pitched voice SKELETAL DISORDERS pituitary dwarfism III Page 1 of 2 Copyright V.[studyres.com] pitched voice, proportioned body, and abnormal genitalia .[en.wikipedia.org] (e) Voices were high-pitched with a “small” timbre. (f) Normal secretions of TSH, FSH and ACTH. (g) Low concentration of growth hormone in serum.[biologydiscussion.com]

  • 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov] […] 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]

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