Syndromes and Birth Defects

1. Syndromes and Birth Defects Beth Rutter Help Me Grow Service Coordinator

2. What is a syndrome? • Clinically recognizable features (observed by a physician) • Symptoms reported by the patient • Involves multiple body systems (cardiovascular, craniofacial, neurological, vision, hearing, etc.) • Often named for the first diagnosed patient or the physician who discovered the disease

3. Most Common Syndromes • Down Syndrome • Marfan Syndrome • Fragile X

4. Down Syndrome • Affects 1 in 800 births • Chromosomal abnormality due to additional copy of Chromosome 21 resulting in having 47 chromosomes instead of 46 • Can affect the heart, gastrointestinal system, vision, hearing, thyroid and cause learning and developmental delays • Diminished muscle tone • Most recognizable syndrome due to facial features

5. Facial Features of Down Syndrome • Eyes that slant upward • Small ears that may fold over a little at the top • A small mouth, making the tongue appear large • A small nose with a flattened nasal bridge • A short neck • Small hands and feet • Low muscle tone • Short stature in childhood and adulthood

7. Children with Down Syndrome have special health needs • Glasses and/or hearing aids • Medication for thyroid levels • Open heart surgery or medication for heart defects • Specialized diet due to Hirschsprung’s Disease • Colostomy bag due to Hirschsprung’s • Special diet to ensure healthy weight

8. Developmental Characteristics of Children with Down Syndrome • Delayed motor skills • Including oral motor therapy for feeding/speech issues due to decreased muscle tone in jaw/mouth • Delayed communication skills • Delayed cognitive development

9. Marfan Syndrome • 1 in 5,000 births • Inherited connective tissue disorder • Involves heart, blood, eyes, skeletal • Tall and slender build • Disproportionately long arms, legs, fingers and toes • A breastbone that protrudes outward or dips inward • A high, arched palate and crowded teeth • Heart murmurs • Extreme nearsightedness • A curved spine • Flat feet

11. Special Needs of Children with Marfan Syndrome • Physical, occupational and speech therapy • Medication for cardiovascular health • Glasses • Some physical limitations to ensure safety • Cannot ride roller coasters • Rough and tumble play might be limited • Should avoid jump houses or trampolines

12. Developmental Characteristics of Children with Marfan Syndrome • Delayed physical skills • Delayed communication skills • Delayed cognitive skills • Development can be delayed due to multiple heart surgeries or illness

13. Fragile X • More severe in males due to two X chromosomes • Large /protruding ears • Recurrent otitis media in childhood • Soft skin • Flexible joints (particularly fingers, wrists, elbows) • Low muscle tone • Flat feet • Long face • Large testicles  (males) • Seizure disorder • Often dual diagnosis of mental retardation and or Autism

15. Developmental Characteristics of Children with Fragile X • Delayed physical development • Delayed communication • Delayed cognitive development • Delayed social development

16. Other Common Syndromes • DiGeorge Syndrome: heart, craniofacial, palate, growth hormone deficiency, renal issues • CHARGE Syndrome: coloboma, heart, atresea of the nasal choanae, retardation of growth, genital or urinary, ear abnormalities and deafness • HELLP Syndrome: prenatal, hemolytic anemia, elevated liver enzymes, low platelet count • Angelman Syndrome: neurological (seizures), vision (strabismus), hypopigmentation of hair and eyes

17. What is a birth defect? • Birth defects are defined as abnormalities of structure, function, or body metabolism that are present at birth. • These abnormalities lead to mental or physical disabilities or are fatal. • There are more than 4,000 different known birth defects, ranging from minor to serious, and although many can be treated or cured, they're the leading cause of death in the first year of life. • Caused by genetic, environmental or unknown factors.

18. Most Common Birth Defects • Heart • Lip • Palate • Limbs • Neural Tube Defects

19. Congenital Heart Defects • Any defect of the heart that is present at birth • Atrial Septal Defect (ASD) • Ventral Septal Defect (VSD) • 1 in 125 babies are born with CHD • Multiple causes and is often a characteristic of a syndrome but can stand alone • ASD and VSD can be remedied with medication or surgery but can resolve without either, through growth

20. Lip and Palate Defects • Cleft lip • Cleft Palate • Feeding is often difficult • Dental development is affected • Surgery can remedy clefts and often go unnoticed due to advances in plastic surgery • Fetal development stalls causing an opening or “cleft” which doesn’t close • Can be a sign of a syndrome such as Pierre-Robin

21. Limb Defects • Amniotic Banding is most common. • Theory is that the amniotic sac causes the banding after rupture • Finger loss is most common with full limb loss secondary • Clubfoot is also common in babies with amniotic banding

22. Neural Tube Defects • Spina Bifida • Midline Defects • Neural tube development stops at a certain point on the spine, location of myelocele determines what control the child has over lower limbs, bowels and bladder • Children usually have shunts to prevent accumulation of spinal fluid • Cognitive development is usually typical, or advanced

23. Questions?