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10 Possible Causes for Cafe-Au-Lait Spots, Delayed Bone Age, 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] However, in each child with RSS, a particular attention should be given to a decreased height velocity, a severely delayed bone age as well as a history of major perinatal[ncbi.nlm.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]

  • 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] bone age, hip dysplasia, and elbow dislocation (Faivre et al. 2002).[preventiongenetics.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]

  • 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] Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis[ncbi.nlm.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]

  • 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] bone age, hip dysplasia, and elbow dislocation (Faivre et al. 2002).[preventiongenetics.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]

  • 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] Affected infants and children may also exhibit abnormally delayed, immature bone development (delayed bone age).[rarediseases.org] 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]

  • Short Stature due to Endocrine Disorder

    […] lower jaw Small jaw Small lower jaw [ more ] 0000347 Neonatal hyperbilirubinemia 0003265 Osteoporosis 0000939 Small placenta 0006266 5%-29% of people have these symptoms Cafe-au-lait[rarediseases.info.nih.gov] Other features may include delayed bone age, developmental delay, and dysmorphic features.[ncbi.nlm.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]

  • Baraitser Syndrome

    Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info] bone age, relative hypolipidemia, initial camptodactyly/joint contracture, progressive kyphoscoliosis, osteoporosis with loose joints, ventriculomegaly, and generalized organic[ncbi.nlm.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]

  • Macrocephaly-Developmental Delay Syndrome

    au lait spots, syndactyly, polydactyly and clinodactyly - Normal IQ - primary hypogonadism Issue is INCREASED CANCER RISK, esp lymphoma, leukaemia, carcinomas and Wilm's[quizlet.com] Hand X-ray showed delayed bone age.[molecularcytogenetics.biomedcentral.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Short Stature - Wormian Bones - Dextrocardia Syndrome

    au lait spots Precocious puberty (girls) Osler-Weber-Rendu syndrome Hereditary hemorrhagic telangiectasia -Autosomal dominant -fibrovascular dysplasia with development of[quizlet.com] bone age, facial dysmorphisms, and expressive language delays, indicative to a specific set of signs, symptoms or other health indicators, associated with short stature with[wellnessadvocate.com] Wide spacing between first and second toes ( Matthews and Robin, 2011 ). 3. Skin. a. Short neck with excess nuchal skin. C. Associated findings. 1. Prematurity. 2.[nursekey.com]

  • Multiple Epiphyseal Dysplasia - Severe Proximal Femoral Dysplasia

    au lait spots being common The tibia in the lower 2/3 is the most commonly affected bone and the left slightly more frequently than the right The fibula is also frequently[flinders.edu.au] Hands: short, stubby fingers partial agenesis/aplasia of terminal phalanges, simulating acro-osteolysis delayed bone age Cranial and maxillofacial marked delay in sutural[slideshare.net] (C) Adduction of the right forefoot with wide spacing between the first and second toes. The left foot shows only mild shortening of the first toe.[jmg.bmj.com]

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