Schimke Immunoosseous Dysplasia
SIOD

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Prevalence (%) of clinical parameters based on data from 1 references describing 39 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Short stature skeletal 100 % 10653321 2015-12-03
Ovoid flat vertebrae skeletal 97 % 10653321 2015-12-03
Hypertension circulatory 97 % 10653321 2015-12-03
Lymphopenia circulatory 95 % 10653321 2015-12-03
Lumbar lordosis skeletal 94 % 10653321 2015-12-03
Abnormal femoral head skeletal 94 % 10653321 2015-12-03
Hypoalbuminemia circulatory 94 % 10653321 2015-12-03
Edema integumentary 94 % 10653321 2015-12-03
Short neck skeletal 91 % 10653321 2015-12-03
Renal failure urinary 88 % 10653321 2015-12-03
Focal segmental glomerulosclerosis urinary 87 % 10653321 2015-12-03
Bulbuos nasal tip integumentary 85 % 10653321 2015-12-03
Low nasal bridge skeletal 81 % 10653321 2015-12-02
Hypoplastic pelvis skeletal 81 % 10653321 2015-12-03
Intrauterine growth retardation multi 70 % 10653321 2015-12-03
Anemia circulatory 69 % 10653321 2015-12-03
Stroke nervous 49 % 10653321 2015-12-03
Hypothyroidism endocrine 48 % 10653321 2015-12-03
Recurrent infections lymphatic 48 % 10653321 2015-12-03
Neutropenia circulatory 44 % 10653321 2015-12-03
Thrombocytopenia circulatory 41 % 10653321 2015-12-03
Arteriosclerosis circulatory 41 % 10653321 2015-12-03
Microdontia skeletal 38 % 10653321 2015-12-03
Corneal opacities nervous 27 % 10653321 2015-12-03
Developmental delay nervous 19 % 10653321 2015-12-03
Moyamoya phenomenon circulatory 18 % 10653321 2015-12-03
Decreased growth hormone endocrine 5 % 10653321 2015-12-03



List of references:


Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
C F Boerkoel, S O'Neill, J L André, P J Benke, R Bogdanovíć, M Bulla, A Burguet, S Cockfield, I Cordeiro, J H Ehrich, S Fründ, D F Geary, A Ieshima, F Illies, M W Joseph, I Kaitila, G Lama, B Leheup, M D Ludman, D R McLeod, A Medeira, D V Milford, T Ormälä, Z Rener-Primec, A Santava, H G Santos, B Schmidt, G C Smith, J Spranger, N Zupancic, R Weksberg,



European journal of pediatrics -