Edwards Syndrome

Edwards et al. and Smith et al. independently described this

syndrome in 1960. Prevalence is approximately 1 in 6000
8000 live births.

BASIC DEFECTS
1. Preponderance of females in liveborns (sex ratio 0.63)
(sex ratio defined as the number of males divided by the
number of females) compared to fetuses diagnosed
prenatally (sex ratio 0.90) indicating a prenatal selection
against Edwards syndrome males after the time of
amniocentesis

CLINICAL FEATURES
1. Prenatal history
a. Maternal polyhydramnios possibly related to defective fetal sucking and swallowing reflexes in utero
b. Oligohydramnios secondary to renal defects
c. Disproportionately small placenta
d. Single umbilical artery
e. Intrauterine growth retardation
f. Weak fetal activity
2. Clinical history
a. Apneic episodes
b. Poor feeding
c. Marked failure to thrive
3. Physical growth: profound growth retardation
4. Central nervous system (CNS)
a. Inevitable profound delay in psychomotor development and mental retardation (100%)
b. Neonatal hypotonia followed by hypertonia
c. Jitteriness
d. Apnea
e. Seizures
f. Malformations
i. Microcephaly
ii. Cerebellar hypoplasia
iii. Meningoencephalocele
iv. Meningomyelocele
v. Arnold-Chiari malformation
vi. Hypoplasia or aplasia of the corpus callosum
5. Cranial
a. Microcephaly
b. Elongated skull
c. Narrow bifrontal diameter
d. Wide fontanels and cranial sutures
e. Prominent occiput

6. Facial
a. Microphthalmia
b. Ocular hypertelorism
c. Epicanthal folds
d. Short palpebral fissures
e. Short nose with upturned nares
f. Micrognathia/retrognathia
g. Microstomia
h. Narrow palatal arch
i. Low-set, malformed ears (faun-like with flat pinnae
j. and a pointed upper helix)
7. Skeletal
a. Severe growth retardation
b. Characteristic hand posture, with clenched hands
with the index finger overriding the middle finger and
the fifth finger overriding the fourth finger
c. Camptodactyly
d. Radial hypoplasia or aplasia
e. Thumb aplasia
f. Syndactyly of the second and third digits
g. Arthrogryposis
h. Rocker-bottom feet with prominent calcanei
i. Talipes equinovarus
j. Dorsiflexed great toes
k. Short sternum
l. Narrow pelvis
8. Cardiac malformations in more than 90% of infants
a. Ventricular septal defects
i. Present in about two-thirds of cases
ii. Large defect unlikely to undergo spontaneous
closure
b. Polyvalvular heart disease (pulmonary and aortic
valve defects)
c. Double outlet right ventricle
d. Atrial septal defects
e. Patent ductus arteriosus
f. Overriding aorta
g. Coarctation of aorta
h. Hypoplastic left heart syndrome
i. Tetralogy of Fallot
j. Transposition of great arteries
9. Pulmonary
a. Pulmonary hypoplasia
b. Abnormal lobation of the lung

EDWARDS SYNDROME

10. Gastrointestinal
a. Omphalocele
b. Malrotation of the intestine
c. Ileal atresia
d. Common mesentery
e. Meckel diverticulum
f. Esophageal atresia with or without tracheoesophageal
fistula
g. Diaphragmatic eventration
h. Prune belly anomaly
i. Diastasis recti
j. Abnormal lobulation of the liver
k. Absent or hypoplasia of gallbladder
l. Absent appendix
m. Accessory spleens
n. Exstrophy of cloaca
o. Pyloric stenosis
p. Common mesentery
q. Megacolon
r. Imperforate or malpositioned anus
s. Pilonidal sinus
t. Umbilical, inguinal or diaphragmatic hernias
11. Genitourinary
a. Micromulticystic kidneys
b. Double ureters
c. Megaloureters
d. Hydroureters
e. Hydronephrosis
f. Horseshoe kidneys
g. Ectopic kidney
h. Unilateral renal agenesis
i. Cryptorchidism, hypospadias and micropenis in males
j. Hypoplasia of labia and ovaries, bifid uterus, hypoplastic ovaries and clitoral hypertrophy in females
12. Prognosis
a. Approximately 9597.5% of conceptuses die in
embryonic or fetal life
b. Only 30% of live fetuses at mid-trimester amniocentesis surviving to term
c. 510% of affected children survive beyond the first
year
d. Rare reports of long survival into 20s
e. High mortality rate secondary to cardiac and renal
malformations, feeding difficulties, sepsis, and central apnea caused by CNS defects
f. Severe psychomotor and growth retardation invariably present for those who survive beyond infancy

DIAGNOSTIC INVESTIGATIONS
1. Conventional cytogenetic study to detect full trisomy,
mosaic trisomy, or rare translocation type trisomy 18
2. Echocardiography for cardiac anomalies
3. Barium swallow for gastrointestinal anomalies
4. Ultrasound for genitourinary anomalies

5. Skeletal radiography
a. Phocomelia
b. Absent radius
c. Tight flexion of the fingers with second over the third
and the fifth over the fourth
d. Talipes equinovarus
e. Short sternum
f. Hemivertebrae
g. Fused vertebrae
h. Short neck
i. Scoliosis
j. Rib anomaly
k. Dislocated hips
6. Histopathological study of temporal bone (auditory organ)
a. External ear: arctation or atresia of external acoustic
meatus (38%)
b. Middle ear
i. Anomalies of auditory ossicles (61%)
a) Incus or malleus
b) Stapes
c. Inner ear
i. Hypoplasia of the ductus semicirculares (37%)
ii. Shortened cochlea (22%)

MANEGEMENT
1. Infancy
a. Medical care
i. Supportive
ii. Treat infections
a) Otitis media
b) Upper respiratory infections (bronchitis,
pneumonia)
c) Urinary tract infections
iii. Nasogastric and gastrostomy supplementation
for feeding problems
iv. Orthopedic management of scoliosis secondary
to hemivertebrae
v. Primarily medical management of congenital
heart disease
vi. Diuretic and digoxin for congestive heart failure
vii. Referral for early intervention including physical
and occupational therapy
viii. Psychosocial management: discuss implications,
possible outcomes, and available supportive
services in the community
ix. Severe developmental delay exhibited by longterm survivors presenting the greatest challenge
to parental coping during the childhood years
x. Informed and empathetic care to families undergoing a complex grieving process that combines
both the reactive grief predominant in chronic
illness and the preparatory grief associated with
impending death
c. Surgical care of Edwards syndrome: Because of the
extremely poor prognosis, surgical repair of severe
congenital anomalies such as esophageal atresia or
congenital heart defects is not likely to improve the
survival rate of infants and should be discussed with
families.

EDWARDS SYNDROME

Fig. 2. An infant showing small eyes, microstomia, low-set/

malformed ears, and short neck.

Fig. 3. An infant showing micro/retrognathia, short neck, and

characteristic finger grasping pattern.

Fig. 1. A fetus showing malformed and low-set ears, characteristic

finger clenching pattern, spina bifida, hyperextended knee, and
talipes equinovarus.

EDWARDS SYNDROME

Fig. 4. Three infants showing reduction malformations of the upper

extremities.

Fig. 5. Two infants showing small eyes, micro/retrog-nathia, and

low-set/malformed ears.

EDWARDS SYNDROME

Fig. 6. Typical hand grasping pattern and rocker-bottom feet with

prominent calcaneus.