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BETH RUTTER HELP ME GROW SERVICE COORDINATOR
Syndromes and Birth Defects
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What is a syndrome?
Clinically recognizable features (observed by a physician)
Symptoms reported by the patientInvolves multiple body systems
(cardiovascular, craniofacial, neurological, vision, hearing, etc.)
Often named for the first diagnosed patient or the physician who discovered the disease
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Most Common Syndromes
Down SyndromeMarfan SyndromeFragile X
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Down Syndrome
Affects 1 in 800 birthsChromosomal 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 toneMost recognizable syndrome due to facial
features
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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
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Children with Down Syndrome have special health needs
Glasses and/or hearing aidsMedication for thyroid levelsOpen heart surgery or medication for heart
defectsSpecialized diet due to Hirschsprung’s
DiseaseColostomy bag due to Hirschsprung’sSpecial diet to ensure healthy weight
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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 skillsDelayed cognitive development
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Marfan Syndrome
1 in 5,000 birthsInherited connective tissue disorderInvolves heart, blood, eyes, skeletalTall 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
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Special Needs of Children with Marfan Syndrome
Physical, occupational and speech therapyMedication for cardiovascular healthGlassesSome physical limitations to ensure safety
Cannot ride roller coasters Rough and tumble play might be limited Should avoid jump houses or trampolines
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Developmental Characteristics of Children with Marfan Syndrome
Delayed physical skillsDelayed communication skillsDelayed cognitive skillsDevelopment can be delayed due to multiple
heart surgeries or illness
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Fragile X
More severe in males due to two X chromosomesLarge /protruding earsRecurrent otitis media in childhoodSoft skinFlexible joints ( particularly fingers, wrists,
elbows)Low muscle toneFlat feetLong faceLarge testicles (males)Seizure disorder Often dual diagnosis of mental retardation and or
Autism
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Developmental Characteristics of Children with Fragile X
Delayed physical developmentDelayed communicationDelayed cognitive developmentDelayed social development
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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
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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.
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Most Common Birth Defects
Heart LipPalateLimbsNeural Tube Defects
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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 CHDMultiple causes and is often a characteristic
of a syndrome but can stand aloneASD and VSD can be remedied with
medication or surgery but can resolve without either, through growth
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Lip and Palate Defects
Cleft lipCleft PalateFeeding is often difficultDental development is affectedSurgery can remedy clefts and often go
unnoticed due to advances in plastic surgeryFetal development stalls causing an opening
or “cleft” which doesn’t closeCan be a sign of a syndrome such as Pierre-
Robin
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Limb Defects
Amniotic Banding is most common. Theory is that the amniotic sac causes the
banding after ruptureFinger loss is most common with full limb
loss secondaryClubfoot is also common in babies with
amniotic banding
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Neural Tube Defects
Spina BifidaMidline DefectsNeural 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
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Questions?