Syndromes and
Birth Defects
BETH RUTTER
HELP ME GROW SERVICE COORDINATOR
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
Most Common Syndromes
 Down Syndrome
 Marfan Syndrome
 Fragile X
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
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
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
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
Marfan Syndrome
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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
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
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
Fragile X
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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
Developmental Characteristics of Children with
Fragile X
 Delayed physical development
 Delayed communication
 Delayed cognitive development
 Delayed social development
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
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.
Most Common Birth Defects
 Heart
 Lip
 Palate
 Limbs
 Neural Tube Defects
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
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
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
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
Questions?