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1,065 Possible Causes for Cafe-Au-Lait Spots, High Pitched Voice, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] 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]

  • Seckel Syndrome Type 2

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] 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] 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]

  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] 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]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org] 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] 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
  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[medical-dictionary.thefreedictionary.com] 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] […] 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]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[littlepeopleuk.org]

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

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait[ncbi.nlm.nih.gov] Adolescent boys with hypogonadism typically have undeveloped muscles and genitals, a high-pitched voice, and little or no body hair.[patients.uroweb.org] A high-pitched voice, breasts, little body hair, and smaller muscle mass are all things typically associated with women.[study.com]

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

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[en.wikipedia.org] Key characteristics of Bloom syndrome are: Growth deficiency Immunodeficiency Malignancies Predilection to diabetes Distinctive narrow facies High-pitched voice Hypogonadism[dermnetnz.org] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait[rarediseases.info.nih.gov] Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis ; shortened wrist bones; a high-pitched voice; distinctive[globalgenes.org] […] palate ; High pitched voice ; Hip contracture ; Hypermetropia ; Hypoplasia of the capital femoral epiphysis ; Hypoplastic ischia ; Hypoplastic pubic bone ; Hypospadias ;[mousephenotype.org]

    Missing: Wide Space Between the First and Second Toe
  • Pfeiffer-Palm-Teller Syndrome

    […] valves agenesis Pulmonary veins stenosis Pulmonary veno-occlusive disease Pulmonary venous return anomaly Pulmonaryatresia intact ventricular septum Pulmonic stenosis with cafe-au-lait[bioreference.net] Voice Annotation Sufficiency: ?[monarchinitiative.org] Pulmonic stenosis with cafe-au-lait spots[?] Punctate acrokeratoderma freckle like pigmentation[?] Punctate inner choroidopathy[?] Pupaphobia[?] Pure red cell aplasia[?][encyclopedia.kids.net.au]

    Missing: Wide Space Between the First and Second Toe

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