Frequency of clinical, biological, psychological and morphological phenotypic features in individuals with Down syndrome

Characteristic Down Syndrome   "Normal"
Skull
   Brachycephaly 75%1,2  
Eyes
   Oblique palpebral fissures 85%1 - 98%2  
   Epicanthal folds 57%2 - 79%1 6-8%3
   Brushfield spots Photo 35%1 - 75%2  
   Myopia 12%24 - 22.5%25  
   Hyperopia 18%24 - 20.9%25  
   Astigmatism 22%25 - 35%24 15%26
   Strabismus 37%24 - 43%27 1-2%26
   Nystagmus 10%24
   Blepharoconjunctivitis 46%27
   Cataracts
      Infants 3% - 4%43
      Adults 42%24
   Keratoconus 15%27 0.1%26
   Optic nerve hypoplasia 10.1%24  
Nose
   Flat nasal bridge 83%2 - 87%1  
Ears
   Folded helix/dysplastic ear 34%2 - 43%1  
   Binaural hearing loss 64%14  
   Monaural hearing loss 14%14  
   Small external auditory canals 80%15  
   Stenosis 39%15  
Mouth
   Open mouth 40%1 - 65%2  
   Downward turned mouth corners 84%4  
   Protuding tongue 38%1 - 58%2  
   Furrowed tongue 22%1  
   High arched palate 68%1  
   Narrow palate 68%1 - 85%2  
   Malocclusion 40%36  
   Abnormal teeth 31%1  
   Stutter 42%50 - 59%51  
Neck
   Short neck 70%1  
   Loose skin on neck nape 60%1 - 87%2  
Heart
   Congenital malformations 46% - 62%42    =7% of all children28
      Atrioventricular canal defect
      (Endocardial cushion defect)		 52%12 - 59%42  
      Ventricular septal defect 19%42 - 28%12  
      Atrial septal defect 9%42  
      Tetralogy of Fallot 6%42 - 7%12  
      Patent ductus arteriosis 2%12 - 4%42  
Chest
   12th rib anomalies 15%M 26%F5  
   Pectus excavatum 14%6 - 18%2  
   Pectus carinatum 6%6 - 11%2  
Abdomen
   Diastasis recti 76%7 - 87%6  
   Umbilical hernias 89%2  
Extremities
   Short broad hands 38%2 - 61%1  
   Transverse palmar (simian) crease 57%2 - 60%1 5-6%3
   Short fifth finger 51%1,2  
   Incurved fifth finger 43%1 - 51%2  
   Brachyclinodactyly 48%8 - 50%2  
   Clinodactyly 55%9  
   Brachymesophalangia 21%10 - 25%9  
   Syndactyly 10.7%2 - 11.4%11  
   Gap between 1st & 2nd toes Photo 64%1 - 96%2  
Gastrointestinal
   Chronic constipation 30%16  
   Celiac disease 0.8%33 - 4.7%34 0.012-0.43%35
   Congenital malformations 10%17 - 12%18  
      Duodenal stenosis 4-7%28 =30-50% all cases28
      Hirschsprung's disease 3-4%28 0.02%28
      Imperforate anus 3%19  
Musculosketal
   Hyperflexibility 60%1- 92%2  
   Muscular hypotonia 40%1- 85%2  
   Atlantoaxial instability 14.6%20  
   Scoliosis 11%21  
   Lordosis 14%21  
   Epiphysiolysis 1-2%8  
   Patella subluxation 19%22  
   Patella dislocation 4%22  
   Patella chrondromalacia 6%22  
Endocrine/Autoimmune Disorders
   Alopecia Areata 9%47 0.1%47
   Leukemia   10-20 x higher29
   Acute transitory megakaryoblastic leukemia 17%30 500-fold incidence31
   Persistant primary congenital hypothyroidism    0.7%13 - 10%32 0.015-0.020%32
   Acquired hypothyroidism 13-54%32 0.8-1.1%32
   Adult hypothyroidism 40%23  
   Cryptorchidism 27%8  
   Diabetes mellitus 0.8%37  
Psychological
   Psychiatric Disorders 25-26%39
      Obsessive Compulsive Disorder 0.8%38
      Autistic Spectrum Disorder 5-7%40
      Depression 6.1%38
      Aggressive behavior 8%38
Life Expectancy
   1929 9 years41  
   1940's ~12 years44  
   1950's ~18 years44  
   1982 35 years46  
   1983 25 years49  
   1986-1991 (profound mental retardation) 43 years45  
   1986-1991 (mild/moderate retardation) 55 years45  
   1983-1997 49 years49 76.9 years49
Intelligence Quotient
   1999 25-6048  
References
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