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1,544 Possible Causes for Dysmorphic Face, High Pitched Voice, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • Dubowitz Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] 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]

  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] 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]

    Missing: Wide Space Between the First and Second Toe
  • Mulibrey Nanism Syndrome

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

    Missing: Wide Space Between the First and Second Toe
  • 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]

    Missing: Wide Space Between the First and Second Toe
  • Russell-Silver Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[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]

  • 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]

    Missing: Wide Space Between the First and Second Toe
  • 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]

    Missing: Wide Space Between the First and Second Toe
  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[doi.org] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[doi.org]

    Missing: High Pitched Voice
  • 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] […] include: [1] [2] [3] Small, firm testicles Delayed or incomplete puberty with lack of secondary sexual characteristics resulting in sparse facial, body, or sexual hair a high-pitched[rarediseases.info.nih.gov] 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]

    Missing: Wide Space Between the First and Second Toe

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