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11 Possible Causes for Cafe-Au-Lait Spots, Congenital Onset, 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] […] liver - See Nodular regenerative hyperplasia Nodulosis arthropathy osteolysis syndrome - See Torg Winchester syndrome Noma Noma neonatorum - See Noma NOMID - See Neonatal Onset[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] (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A Mikrodeletionssyndrom 22q11 ( 3 Files ) Erkrankung: 22q11.2 deletion syndrome ICD[orphananesthesia.eu]

  • 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] 1 Split hand foot malformation 1 Multiple epiphyseal dysplasia 5 Keratosis follicularis dwarfism and cerebral atrophy Giant congenital nevus Vein of Galen aneurysm Refsum[checkrare.com]

  • 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] Congenital heart disease and genitourinary anomalies were reported in some cases.[orpha.net]

  • 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] 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] spot 0000957 Concave nasal ridge Boxer's nasal deformity Boxer's nose deformity Saddle nose Ski jump nose [ more ] 0011120 Congenital bilateral ptosis Congenital drooping[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] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] ROHHAD, rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation; ROHHADNET, rapid-onset obesity with hypothalamic dysfunction, hypoventilation[raredr.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Burkholderia Infections Burkitt Lymphoma Burning Mouth Syndrome Burns Burns, Chemical Burns, Electric Burns, Inhalation Bursitis Byssinosis Cachexia Cadaver Cadmium Poisoning Cafe-au-Lait[medgene.med.harvard.edu] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] […] cataract Reduced visual acuity Myopia Congenital onset Macrocephaly Hydrocephalus Hearing impairment Protruding ear Cerebral cortical atrophy Respiratory distress Pachygyria[mendelian.co]

  • Baraitser Syndrome

    Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info] 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] onset Malar flattening Short nose Delayed speech and language development Anemia Hyporeflexia Gastroesophageal reflux Conductive hearing impairment Respiratory tract infection[mendelian.co]

  • 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] 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] 1 Split hand foot malformation 1 Multiple epiphyseal dysplasia 5 Keratosis follicularis dwarfism and cerebral atrophy Giant congenital nevus Vein of Galen aneurysm Refsum[checkrare.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] […] epiphyseal formation; mild short stature; and early-onset osteoarthritis.[healio.com] (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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