Characteristic | Down Syndrome | Typically Developing |
---|---|---|
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 | 1%54 (=7% of all children)28 |
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 — Mean Survival Age | ||
1929 (UK) | 9 years41,53 | |
1932 (UK) | 9 years55 | |
1949 | 12 years41 | |
1950's | ~18 years44 | |
1954 (Australia) | 10 years52 | |
1958 (UK) | 15 years17 | |
1963 (Australia) | 18 years56 | |
1969 (UK) | 35½ years57 | |
1973 (TX, USA) | 30½ years58 | |
1982 | 35 years46 | |
1983 (USA) | 25 years49 | |
1986-1991 (CA, USA) – profound mental retardation | 43 years45 | |
1986-1991 (CA, USA) – mild/moderate retardation | 55 years45 | |
1983-1997 (USA) | 49 years49 | 76.9 years49 |
Intelligence Quotient | ||
1999 | 25-6048 |
References | |
1. Lee, L. & Jackson, J. (1972) Diagnosis of Down's syndrome: Clinical vs. laboratory. Clinical Pediatrics, 11, 353-356. | Revised: December 25, 2010. |
2. Pueschel, S.M. (1984) A study of the young child with Down syndrome. New York: Human Science Press.
3. Cited from Pueschel, S.M. Phenotypic Characteristics, in Pueschel, S.M. & Pueschel J.K. (Eds.) Biomedical Concerns in Persons with Down Syndrome. Baltimore, MD: Paul H. Brookes, 1992:2. 4. Wahrman, J. & Fried, K. (1970) The Jerusalem Prospective Newborn Survey of Mongols. Annals of the New York Academy of Sciences, 171, 341-60. 5. Thuline, H. & Islam, A.R. (1966) Absence of a rib in Down's syndrome. Lancet, i, 1156-7. 6. Domino, G. & Newman, D. (1965) Relationship of physical stigmata to intellectual subnormality in mongoloids. American Journal of Mental Deficiency, 69, 541-5. 7. Levinson, A., Friedman, A. & Stamps, F. (1955) Variability of mongolism. Pediatrics, 16, 43-9. 8. Õster, J. (1953) Mongolism: A clinico-geneological investigation compromising 526 mongols living in Seeland and neighboring islands of Denmark. Copenhagen: Danish Science Press. 9. Roche, A.F., Seward, F.S. & Sutherland, S. (1961) Nonmetrical observations on cranial roentgenograms in mongolism. American Journal of Roentgenology, 84, 659-62. 10. Garn, S.M., Gall, J.C. & Nagy, J.M. (1972) Brachymesophalangia-5 without cone-epiphysis mid-5 in Down's syndrome. American Journal of Physical Anthropology, 36, 253-5. 11. Beckman, L., Gustavson, K.H. & Akesson, H.O. (1962) Studies of some morphological traits in mental defectives. Hereditas, 48, 105-12. 12. Buckley, L.P. Congenital heart disease in infants with Down syndrome in Pueschel, S.M. (Ed.) The Young Child with Down Syndrome. New York: Human Sciences Press, 1989:353. 13. Fort, P., Lifshitz, F., Bellisario, R. et al. (1984) Abnormalities of thyroid function in infants with Down syndrome. J Pediatr, 104, 545-9. 14. Balkany, T.J., Downs, M.P., Jafek, B.W. & Krajicek, M.J. (1979) Hearing loss in Down's syndrome: A treatable handicap more common than generally recognized. Clin Pediatr, 18, 116-8. 15. Strome, M. (1981) Down's syndrome: A modern otorhinolaryngological perspective. Larygoscope, 91, 1581-94. 16. Van Dyke, D.C., Lang, D.L., Miller, J.D., Heide, F., van Duyne, S. & Soucek, M.J. in Van Dyke, D.C., Lang, D.L., Heide, F., van Duyne, S. & Soucek, M.J. (Eds.) Clinical Perspectives in the Management of Down Syndrome. New York: Springer-Verlag, 1990:3-14. 17. Carter, C.O. (1958) A life table for mongols with the causes of death. J Ment Defic Res, 2, 64. 18. Knox, G.E. & Bensel, R.W. (1972) Gastrointestinal malformations in Down syndrome. Minn Med, 55, 542-5. 19. Buchin, P.J., Levy, J.S. & Schullinger, J.N. (1986) Down's syndrome and the gastrointestinal tract. J. Clin Gastrenterol, 8, 111-4. 20. Pueschel, S.M. & Scola, F.H. (1987) Epidemiologic, radiographic and clinical studies of atlantoaxial instability in individuals with Down syndrome. Pediatrics, 80, 555-60. 21. Gahagen, C.A. & Van Dyke, D.C. in Van Dyke, D.C., Lang, D.L., Heide, F., van Duyne, S. & Soucek, M.J. (Eds.) Clinical Perspectives in the Management of Down Syndrome. New York: Springer-Verlag, 1990:80-92. 22. Diamond, L.S., Lynne, D. & Sigman, B. (1981) Orthopedic disorders in patients with Down syndrome. Orthop Clin North Am, 12, 57-71. 23. Dinani, S. & Carpenter, S. (1990) Down's syndrome and thyroid disorder. J. Mental Defic Res, 34, 187-93. 24. Fierson, R.F. in Van Dyke, D.C., Lang, D.L., Heide, F., van Duyne, S. & Soucek, M.J. (Eds.) Clinical Perspectives in the Management of Down Syndrome. New York: Springer-Verlag, 1990:80-92. 25. Caputo, A.H., Wagner, R.S., Reynolds, D.R., Guo, S. & Goel, A.K. (1989) Down syndrome: Clinical review of ocular features. Clin Pediatr, 28, 365-8. 26. Cited in Rogers, P.T. & Coleman, M. (Eds.) Medical Care in Down Syndrome. A Preventative Medicine Approach. New York: Marcel Dekker, 1992:226-31. 27. Shapiro, M.B. & France, T.D. (1985) The ocular features of Down syndrome. Am J Ophthalmol, 99, 659-63. 28. Rasore-Quartino in Rogers, P.T. & Rondal, J. A., Perera, J. & Nadel, L. (Eds.) Down Syndrome. A Review of Current Knowledge. London: Whurr Publishers Ltd., 1999:154-5. 29. Rosner F. & Lee, S.L. (1972) Down's syndrome and acute leukemia: Myeloblastic or lymphoblastic. Report of forty-three cases and review of literature. American Journal of Medicine, 53, 203-14. 30. Cominetti, M., Rasore-Quartino, A., Acutis, M.S. & Vignola, G. (1985) Neonato con sindrome di Down e leucemia mieloide acuta. Difficlotá diagnostiche tra forma maligna e sindrome mieloproliferativa. Pathologica, 77, 625-30. 31. Creutzig, U., Ritter, J. & Vormoor, J. (1996) Myelodysplasia and acute myelogenous leukemia in Down's syndrome. A report of 40 children of the AML-BFM Study Group. Leukemia, 10, 1677-86. 32. Fort, P., Lifschitz, F. & Bellisario, R. (1984) Abnormalities of thyroid function in infants with Down syndrome. Journal of Pediatrics, 58, 893-7. 33. Simila, S. & Kokkonen, J. (1990) Coexistance of coeliac disease and Down syndrome. American Journal on Mental Retardation, 95, 120-2. 34. Castro, M., Criná, A. & Papadatou, B. (1993) Down's syndrome and celiac disease: The prevalence of high IgA-antigliadin antibodies and HLA-DR and DQ antigens in trisomy 21. Journal of Pediatric Gastroenterologic Nutrition, 16, 265-8. 35. Stenhammer, L., Asher, H. & Cavell, B. (1993) Is the incidence of childhood coeliac disease in Sweden still raising? Acta Paediatrica, 82, 1056. 36. Lowe, O. in Van Dyke, D.C., Lang, D.L., Heide, F., van Duyne, S. & Soucek, M.J. (Eds.) Clinical Perspectives in the Management of Down Syndrome. New York: Springer-Verlag, 1990:72-79. 37. Anwar, A.J., Walker, J.D. & Frier, B.M. (1998) Type 1 diabetes mellitus and Down's syndrome: Prevalence management and diabetic complications. Diabet Med, 15 (2), 160-3. 38. Myers, B.A. & Pueschel, S.M. (1991) Psychiatric Disorders in Persons with Down Syndrome. J Nerv Ment Dis 179, (10), 609-13. 39. Pary, R.J. (1993) Psychiatric Disorders in Adults with Down Syndrome. Habil Ment Healthcare Newslett 12, 26-7. 40. Capone, G.T. (1999) Down Syndrome and Autistic Spectrum Disorder: A Look at What We Know. Disability Solutions 3, (5-6), 8-15. 41. Penrose, L.S. (1949) The incidence of mongolism in the general population. Journal on Mental Science, 95, 685. 42. Kidd, L. Cardiorespiratory problems, in Lott IT, McCoy EE (Eds): Down Syndrome: Advances in Medical Care. NY: Wiley-Liss, 1992, 61-9. 43. Cited from Pueschel, S.M. General Health Care and Therapeutic Approaches, in Pueschel, S.M. & Pueschel J.K. (Eds.) Biomedical Concerns in Persons with Down Syndrome. Baltimore, MD: Paul H. Brookes, 1992:289-300. 44. Cunningham, C. C. Understanding Down syndrome: An introduction for parents. Cambridge, MA: Brookline Books, 1996:96. 45. Strauss, D., Eyman, R. K. (1996 May) Mortality of people with mental retardation in California with and without Down syndrome, 1986-1991. Am J Ment Retard, 100, 643-53. 46. Thase M.E. (1982 Sep) Longevity and mortality in Down's syndrome. J Ment Defic Res, 26, (Pt 3) 177-92. 47. Tazi-Ahnini R et al. (2000 Jun) Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region. Hum Genet 106, (6): 639-45. 48. Jorde, L.B., Carey, J.C., Barshad, M.J., White, R.L. (1999) Medical Genetics 114-117. New York: Mosby. 49. Yang, Q., Rasmussen, S.A., Friedman, J.M. (2002) Mortality associated with Down's syndrome in the USA from 1983 to 1997: A population-based study. Lancet 359, (9311), 1019-25. 50. Devenny D.A., Silverman W.P. (1990) Speech dysfluency and manual specialization in Down's syndrome. J Ment Defic Res 34, (3), 253-60. 51. Preus A. Stuttering in Down's syndrome. In: Lebrun Y., Hoops R. (Eds.) Neurolinguistic Approaches to Stuttering. The Hague: Mouton: 1973. 52. Brothers C.R.D., Jago G.C. (1954) Report on the longevity and the cause of death in mongoloidism in the State of Victoria. J. Ment Sc 100: 580. 53. Jenkins R.L. (1933) Etiology of mongolism Am J Dis Child 45: 506. 54. Stratford B. (1999 Nov-Dec) Down Syndrome: Treatment and Attitudes in the Past, at Present and in the Future Journal of Paediatrics, Obstetrics and Gynecology 25: (6) 9-16. 55. Penrose L.S. (1932) On the interaction of heredity and environment in the study of human genetics with special reference to mongolian imbecility Journal of Genetics 25: 407. 56. Collman, R.D., Stoller A. (1963) A life table for mongols in Victoria, Australia J Ment Defic Res 7: 60. 57. Richards B.W., Sylvester P.E. (1969) Mortality trend in mental deficiency institutions J Ment Defic Res 15: 276. 58. Deaton, J.G. (1973) The mortality rate and causes of death among institutionalized mongols in Texas J Ment Defic Res 17: 117-120. |