BETH RUTTER HELP ME GROW SERVICE COORDINATOR

Syndromes and Birth Defects

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

Most Common Syndromes

Down SyndromeMarfan SyndromeFragile X

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

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 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

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

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

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

Developmental Characteristics of Children with Marfan Syndrome

Delayed physical skillsDelayed communication skillsDelayed cognitive skillsDevelopment can be delayed due to multiple

heart surgeries or illness

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

Developmental Characteristics of Children with Fragile X

Delayed physical developmentDelayed communicationDelayed cognitive developmentDelayed 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 LipPalateLimbsNeural 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 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

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

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

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

Questions?