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1,410 Possible Causes for Cafe-Au-Lait Spots, Ectopic Kidneys, 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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] kidney Abnormal kidney location Displaced kidney [ more ] 0000086 Scoliosis Abnormal curving of the spine 0002650 1%-4% of people have these symptoms High pitched voice 0001620[rarediseases.info.nih.gov]

  • 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] kidney Abnormal kidney location Displaced kidney [ more ] 0000086 Scoliosis Abnormal curving of the spine 0002650 1%-4% of people have these symptoms High pitched voice 0001620[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]

  • 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] Less commonly observed clinical features include cafe au lait spots, genitourinary anomalies, motor, speech, cognitive delays, and hypoglycemia.[mayomedicallaboratories.com]

    Missing: Ectopic Kidneys
  • Polyostotic Fibrous Dysplasia

    When melanotic pigmentation (cafe-au-lait spots) and multiple endocrine hyperfunction are additionally associated it is referred to as albright syndrome ICD-9-CM Volume 2[icd9data.com] Our patient also had hypoplastic and ectopic left kidney. Both fibrous dysplasia and myxomas presented with typical findings on imaging studies.[ijri.org] au lait ' spots Presentation is variable 1 : leg pain, limp, pathological fracture : 75% abnormal vaginal bleeding: 25% coast of Maine cafe-au-lait spots predominantly on[radiopaedia.org]

    Missing: Wide Space Between the First and Second Toe
  • Multiple Endocrine Neoplasia Type 2B

    Also, systemic findings including a marfanoid habitus, history of diarrhea, constipation, or both, thickened lips, nodules on the anterior aspect of the tongue, cafe-au-lait[healio.com] Mieny, Familial phaeochromocytoma with von Hippel's disease in one sister and ectopic adrenal cortex in the kidney in another, British Journal of Surgery, 65, 2, (138-140)[doi.org] Figure 3 The first toe is longer than the others and there is a wide space between the first and second toe.[ijponline.biomedcentral.com]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[wikidata.org] A variety of structural, function and acquired renal disorders have been identified in children with AGS including: Solitary kidney Ectopic kidney Small kidney Unilateral[chop.edu] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[moldiag.com]

    Missing: Wide Space Between the First and Second Toe
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Multiple neurofibromas Lisch nodules Optic pathway glioma NF1 - Neurofibromatosis 1 Neurofibromin protein - Chromosome 17, AD Bilateral acoustic neuromas Multiple cafe-au-lait[quizlet.com] kidney Sensory axonal neuropathy Broad-based gait Short chin Postural tremor Retinopathy Rigidity Hypocalcemic seizures Sinusitis IgA deficiency Pulmonary fibrosis Cafe-au-lait[mendelian.co] au lait spots -neurofibromas (nerve tumor) -optic glioma -frecklying of axilla or inguinal -iris hamartoma -cortical thinningof long bones, sphenoid dysplasia relatvie with[brainscape.com]

    Missing: Wide Space Between the First and Second Toe
  • Ovarian Cyst

    Physical exam should pay careful attention to the patient's tanner stage, the abdominal exam for palpable masses, tenderness and/or rebound, the skin exam for cafe-au-lait[pedclerk.bsd.uchicago.edu] These tests can help rule out other possible causes of your symptoms, such as an ectopic pregnancy, appendicitis, or a kidney stone. These tests may include: Ultrasound.[fairview.org] Appendiceal or diverticular abscess Ectopic pregnancy The diagnosis of an ovarian cyst is most often made based on imaging rather than by physical examination, laboratory[clevelandclinicmeded.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] spots, digital anomalies, hip or elbow dislocations, and other abnormalities.[icd10data.com]

    Missing: Ectopic Kidneys
  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.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] […] death at 2.5 years old due to pulmonary bleeding46,XX,r(11)(p15q25)/45,XX; ring instability; clinical features of JS; and karyotype of parents unavailable (3) Neonatal/F– Cafe[edmcasereports.com]

    Missing: Ectopic Kidneys

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