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1,592 Possible Causes for Cafe-Au-Lait Spots, Dysmorphic Face, 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] […] and further dysmorphisms.[ncbi.nlm.nih.gov]

  • 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] face (bird-like), and mild to severe intellectual disability.[orpha.net]

  • 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] , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[medic8.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: Cafe-Au-Lait Spots
  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[care.com] Abnormalities of pigmentation in Noonan syndrome include multiple pigmented nevi, cafe-au-lait spots, as well as lentigines.[news-medical.net] Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info]

    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] 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]

  • Klinefelter Syndrome

    Neurofibromatosis is an autosomal dominant disorder characterized by cafe-au-lait spots and fibromatous tumors of the skin.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 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] face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait[chr7.org]

  • 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] We report on a girl with ID, mild dysmorphic face and Turner like features who had a de novo 14;18 translocation.[healthdocbox.com] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Cleidocranial Dysplasia

    au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia[medicine.academic.ru] The patient's family history showed his father and eldest daughter with similar dysmorphic faces, skeletal disorders and proximal upper extremity weakness.[ncbi.nlm.nih.gov] Wikipedia List of diseases (C) — A list of diseases in the English wikipedia.C* C syndrome * C1 esterase deficiency (angioedema)CaCac Cal* Cacchi Ricci disease * CACH syndrome * Cafe[medicine.academic.ru]

    Missing: Wide Space Between the First and Second Toe

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