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10 Possible Causes for Cafe-Au-Lait Spots, Recurrent Infection, 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] Eczema and recurrent infections require conservative treatment.[orpha.net] 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] · Seek appropriate consultation for recurrent ear infections, hypospadius, undescended testicles, leg length discrepancies, etc.[coltongeorge.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] The child had recurrent infections frames of upper airway, with loss of consciousness and gastroenteritis, being hospitalized for a long period of time.[scielo.br] Abnormalities that suggest alternative diagnoses include congenital anomalies of the face, limbs, heart, or viscera; recurrent infections (other than otitis media or respiratory[ncbi.nlm.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] […] otitis media, and recurrent urinary tract infections q10 q11.23 15580634 Edit 68 12606126_1_1 51, XX, 6, dic r(7;7)(q22q21.2;p22q21.2), 13, 18, 18 [7] /66, XXX, -1, -4, 6[chr7.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]

  • 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] Most people with this disorder develop hearing loss and have recurrent ear infections.[ghr.nlm.nih.gov] 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] Infants typically manifest persistent epiphora and/or recurrent infections of the lacrimal pathway, such as conjunctivitis.[genecards.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Baraitser Syndrome

    Cafe-au-lait spots, pigmented naevi and lentigines are more frequent than in the general population.[patient.info] ., A heterozygous mutation of -actin associated with neutrophil dysfunction and recurrent infection , 10.1073/pnas.96.15.8693 Schaap C, Genet Couns , 3 , 209 (1992) Fryns[dial.uclouvain.be] 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 - 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] […] urinary tract infection, chronic diarrhea with stool loos ening, vein varices and arterial aneurysms, and mild mental retardation (Lazoff et al. 1975; MacFarlane et al. 1980[rrnursingschool.biz] 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]

  • 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] infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q33 RP11-209G24 15834588 same case as 15834588_2; translocation[chr7.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Heimler Syndrome

    […] respiratory tract infections Obstructive sleep apnea Shawl scrotum Patellar dislocation Hypoplastic iliac wing Capillary hemangioma Glioma Overweight Neuroblastoma Neurofibromas Cafe-au-lait[mendelian.co] MAGT1 Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia MAN1B1 Mental retardation MANBA Mannosidosis, lysosomal MCCC1 3-Methylcrotonyl-CoA[genda.com.ar] […] fractures Hypoplasia of the maxilla Highly arched eyebrow Sarcoma Recurrent upper respiratory tract infections Obstructive sleep apnea Shawl scrotum Patellar dislocation[mendelian.co]

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