Common Genetic syndromes. Dr. E.M. Honey Department Genetics Division Human Genetics University of Pretoria

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1 Common Genetic syndromes Dr. E.M. Honey Department Genetics Division Human Genetics University of Pretoria

2 Definitions Deformation Malformation Disruption Dysplasia Syndrome Associations Complex Sequences Major and minor anomalies

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9 Introduction Developing countries has a higher burden Genetic disorders not rare 2-3% of all births 12% of Paediatric admissions 50% of adult disorders have a genetic component 11% of neonatal deaths More than 6000 syndromes described

10 Classification(Causes) Genetic: Chromosomal 6% Single gene 7,5% Multifactorial 20-30% Subtotal 30-40% Environmental: Drugs and chemicals 2% Infections 2% Maternal illness 2% Physical agents 1% Subtotal 5-10% Unknown: 50%

11 Neurofibromatosis type 1 Autosomal dominant 1 in 3000 NF 1 locus on chromosome 17 and the gene has been clones Recurrence risk 50%

12 Clinical features: Café au lait patches Neurofibroma Lisch nodules Intellectual disability Seizures Malignant changes (5-10%) Learning disorders (40%)

13 Oculocutaneous albinism Autosomal recessive Hereditary defect in the metabolism of melanin resulting in the decrease or absence of this pigment in the skin, mucosa, hair or eyes 1 in 3900 (African population) Recurrence risk 25%

14 Clinical features: Depigmented skin Skinsensitivity Nystagmus Visual problems Increased susceptibility to skin cancer

15 Limit skin exposure Protective clothing Protective sunscreen lotion Wear sunglasses School of the blind Attention to suspicious skin lesions Visit Dermatologist and Ophthalmologist on a yearly basis Management

16 Duchenne muscular dystrophy X-linked recessive 1 in 3500 males with no ethnic variation DMD gene on Xp21 - dystrophin product Carrrier testing in affected females possible Becker muscular dystrophy: milder degree

17 Clinical features Muscle weakness from 3-5 years Positive Gower s sign Delay in walking Wheelchair bound by 11 years Death at a mean age of 18 years Pseudohypertrophy of calf muscles and wasting of the proximal muscles Mild to moderate intellectual impairment Cardiac muscle involvement

18 Down syndrome Commonest cause of congenital mental disability in developed countries 1 in 700 pregnancies 3 types: 1. Non-dysjunction (92-95%) 2. Translocation(5%) 3. Mosaic(3%)

19 Clinical features Small brachicephalic head, third fontanel Facial dysmorphism, open mouth, protuberant tongue, epicantic folds and upslanting palpebral features Short stature Prominent hypotonia

20 Clinical features Short stubby fingers, single palmar crease and clinodactily Increased distance between first and second toes ( sandal gap ) Cardiac, skeletal and gastro-intestinal defects Mental retardation (IQ 20-50) Increased risk for haematological and endocrine diseases

21 Management Mental retardation: Stimulation programmes, special schooling(?) and sheltered employment Cardiac defects Recurrent infections

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23 Recurrence risk Non-disjunction - 1% and increase with AMA Translocation - 10% if from the mother and 2% if from the father Mosaic - less than 1% Antenatal testing possible: Maternal screening Ultrasound: Nuchal translucency Chorionic villi sampling or amniocentesis

24 Trisomy 18 (Edward syndrome) Incidence of approximately 0,3 per 100 More than 130 different abnormalities noted Non-disjunction(full), translocation, mosiac, partial trisomy 18

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26 Monosomy X/ 45X0 (Turner syndrome) Described in 1938 Incidence of 1 in 2500 females Most 45X0 conceptuses die early Paternal X chromosome most likely missing No significant older maternal age and usually sporadic Approximately 6% of females with Turner syndrome have 45X/46XY mosaïcism If mentally deficient look for another chromosomal defect

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28 47XXY/ Klinefelter syndrome Most common single cause for hypogonadism and infertility Affects approximately 1 in 500 males

29 Neural tube defects Multifactorial Three conditions: 1. Anencephaly 2. Encephalocoele 3. Spina bifida Failure of the neural tube to close by the end of the forth postconceptual week Aethiology: Genetic predisposition and environmental factors e.a. folic acid deficiency

30 Neural tube defects Recurrence risk: 1 affected child 5% 2 affected children 10% 1 affected parent 4% Folic acid periconceptually reduces the risk by 72% Prenatal diagnosis: AFP(maternal and amniotic fluid) and maternal ultrasound

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32 Teratogenesis Teratogen: A drug, chemical, infectious or physical agent, maternal disease or metabolic agent that by acting on the developing fetus causes a structural or functional abnormality(congenital malformation or birth defect) present at birth Susceptible stages of development: 1st trimester: 0-17 days: not susceptible days: highly susceptible days: susceptibility continue 2nd trimester: decreasing susceptibility 3rd trimester: minimal susceptibility

33 Fetal alcohol syndrome Most common teratogen Growth deficiency: 1. Small stature 2. Microcephaly Mental deficiency Poor fine motor Hyperactivity 3. Facial dysmorphisms Short nose Inner epicantic folds Smooth philtrum Thin upper lip Small midface 4. Other defects Cardiac, skeletal

34 Fetal alcohol syndrome(cont.) Etiology: Heavy alcohol exposure Unsure about safe level during pregnancy Bingeing more harmful All women should abstain from taking alcohol during pregnancy Genetic predisposition

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36 Other Human teratogens Maternal disease: Diabetes mellitis, phenylketonuria, epilepsy, hyperthermia, hypothyroidism, starvation Maternal infections: Toxoplamosis, Rubella, CMV, Herpes simplex, syphilis, varicella zoster, parvovirus, HIV Environmental chemicals Radiation Drugs: Anticoagulants(Warfarin), anticonvulsants(phenytoin), anti-cancer drugs, antibiotics(tetracycline), hormones(androgens and diethylstilbestrol), psychiatric drugs(lithium), Vitamin A congeners(ruaccutane) and salicylates(aspirin)

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39 Ambiguous genitalia Medical emergency! Differential diagnosis: Chromosomal abnormalities CAH Testicular feminization Hermaphrodite Effect of androgens or estrogens in utero Hypothalamic and pituitary defects

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