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921 Possible Causes for Cafe-Au-Lait Spots, Congenital Hemihypertrophy, 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] Deamer: Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics, Evanston, Illinois, 1953, 12: 368-375. A.[whonamedit.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]

  • 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] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.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 Hemihypertrophy

    Type 1 is more common and is associated with cafe au lait spots on the skin.[congenitalhand.wustl.edu] We describe a 19-year-old female, known to have congenital hemihypertrophy, who presented with bilateral benign pheochromocytoma.[ncbi.nlm.nih.gov] […] hemihypertrophy - Vascular anomalies of skin / mucosae - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Xanthomas / lipomas Frequent - Bronchogenic cyst - Cafe-au-lait[csbg.cnb.csic.es]

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

    The subject should be examined for cafe au lait spots if neurofibromatosis is suspected.[clinicalpainadvisor.com] Medullary sponge kidney associated with congenital hemihypertrophy. J Am Soc Nephrol 1996 ; 7 : 1123 –1130 4 Mulligan LM, Eng C, Healey CS et al .[doi.org] Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination?. Eur J Pediatr. 2002 Mar. 161(3):157-60. [Medline].[emedicine.com]

    Missing: Wide Space Between the First and Second Toe
  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[rarediseases.info.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] spot 0000957 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dystrophy 0001135 Coloboma Notched pupil 0000589 Deeply set eye Deep set[rarediseases.info.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 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] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[rarediseases.info.nih.gov]

    Missing: Congenital Hemihypertrophy
  • 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] Congenital hemihypertrophy and pheochromocytoma, not a coincidental combination?. Eur J Pediatr. 2002 Mar. 161(3):157-60. [Medline].[medscape.com] 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]

  • 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] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.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]

  • Myelocerebellar Disorder

    […] rubber bleb nevus -1122500 Diaphyseal medullary stenosis with malignant fibrous histiocytoma -1137050 Brca1 breast cancer type 1 included -1139700 Burkitt lymphoma -1140300 Cafe-au-lait[julesberman.blogspot.com] Hemangioendothelioma Hemangioma thrombocytopenia syndrome Hemangioma, capillary infantile Hemangioma Hemangiomatosis, familial pulmonary capillary Hemangiopericytoma Hemeralopia, congenital[sosu.us] He also had triangular face,microcephaly, generalised hyperpigmentation with cafe au lait spots, flat thenar eminence, absent both thumbs with flexor deformity of both wrists[bmrcbd.org]

    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] Term Definition X-linked dominant, MECP2 gene normal development then drop-off, microcephaly, hand-wringing, seizures, autistic features, arrhythmias Term Definition AD congenital[flashcardmachine.com] 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

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