Characteristics of common syndromes

Question 1

de Lange syndrome

Answer 1

CHD (VSD, ASD, PDA, AS, EFE)

Question 2

Holt-Oram heart-hand syndrome

Answer 2

CHD (ASD, VSD, PDA, conduction block, HLHS, TAPVR, truncus arteriosis)

Question 3

Marfan syndrome

Answer 3

CHD (aortic aneurysm, AR, MR, TR, prolapse)

Question 4

Noonan syndrome

Answer 4

CHD (PS, hypertrophic cardiomyopathy, PDA, coarc)

Question 5

Carpenter

Answer 5

CHD (PDA, PS, VSD, TET, TGA, ASD, dextrocardia)

Question 6

Ellis van Creveld

Answer 6

ASD

Question 7

Mucopolysaccharidosis type 1

Answer 7

CHD (Single atrium, primum ASD, coarc, HLHS)

Question 8

Trisomy 21

Answer 8

Excess skin on posterior neck
Hypotonia, poor or absent Moro reflex
Hyperextensibility of joints, 
Flat facial profile
Low-set ears
Slanted palpebral fissures
Single transverse palmar (simian) creases 
Increased incidence of duodenal atresia, esophageal atresia, imperforate anus, CHD (AV canal, VSD, PDA, ASD, TET), and significant hearing loss (90%)

Question 9

trisomy 18 (Edward’s)

Answer 9

Prenatal and postnatal growth deficiency
Micrognathia
Prominent occiput
Overlapping digits
Low-set ears
Rocker-bottom clubfeet
Generalized hypertonicity. 
Associated anomalies include CHD (VSD, polyvalvular disease, ASD, PDA), TEF-EA, hemivertebrae, omphalocele, myelomeningocele, and radial dysplasia

Question 10

Trisomy 13 (Patau)

Answer 10

ora‒facial clefts
microphthalmia or absence of the eyes
low-set ears, 
rocker-bottom feet, 
moderate microcephaly,
polydactyly, 
scalp cutis aplasia
Associated anomalies include cleft lip and palate, cystic kidneys, holoprosencephaly, severe CNS malformations, CHD (PDA, VSD, ASD, coarc, AS, PS)

Question 11

XO (Turner)

Answer 11

Isolated peripheral edema (lymphedema)
Webbing of neck
Small stature
Frontal prominence
Low posterior hairline
Broad chest with widely spaced nipples. 
Associated anomalies include structural kidney defects,  gonadal dysgenesis, and CHD (Coarc, bicuspid aortic valve, aortic aneurysm, AS, VSD)

Question 12

Beckwith-wiedmann

Answer 12

Mutation or deletion within the chromosome 11p15.5 region.
Large for gestational age and continued altered growth
Refractory hypoglycemia,
Creases on the earlobe
Omphalocele.
Macroglossia
Hyperplasia of a limb or one side of the face or trunk may be present
Associated anomalies include renal malformations and CHD (hypertrophic cardiomegaly, ASD, VSD, PDA, TET)

Question 13

CHARGE

Answer 13

coloboma, heart anomaly (TET, DORV, ASD, VSD, PDA, PS), choanal atresia, restricted growth and development, genital anomalies, ear anomalies and/or deafness
Can be caused by mutations on the CHD7 gene located on chromosome 8q1
Associated anomalies include cleft lip and palate, unilateral facial palsies, mental deficiency or CNS defect, and visual or auditory anomalies

Question 14

DiGeorge

Answer 14

Chromosomal deletion of 22q11.2 characterized by defects of the thymus, conotruncal heart defects, hypoparathyroidism, and secondary hypocalcemia.

Cleft palate
Immunodeficiency due to thymic hypoplasia
Craniofacial features that include microcephaly, abnormally shaped ears, prominent nasal root with bulbous nasal tip, and hooded eyelids.
Hyperextensible fingers and hands.
Associated findings include renal anomalies, hearing loss, significant feeding problems, conotruncal CHD (interrupted aortic arch, TA, TET, right aortic arch)

Question 15

VACTERL association

Answer 15

vertebral anomalies, anal atresia, esophageal atresia with or without tracheoesophageal fistula, and radial and/or renal dysplasia. Cardiac defects, single umbilical artery, limb abnormalities, and IUGR are also nonrandom features of this pattern of anomalies.
CHD (VSD, ASD, TET)

Question 16

Neurofibromatosis

Answer 16

Cafe at lair spots 1.5cm or larger and >3 in number

Dysplastic tumors along nerves and other sites

Question 17

Tuberous sclerosis

Answer 17

Progressive, degenerative Neuro disease in which collections of abnormal neurons and glia occur in brain.
White, macular skin lesions with irregular leaf-like borders

Question 18

Cri du chat

Answer 18

Deletion of short arm of 5th chrom.

Question 19

Dandy walker syndrome

Answer 19

Congenital agenesis of the firemen of magendie and luschka with dilation of the 4th ventricles.
Posterior ballooning of the skull.

Question 20

Osteogenesis imperfecta

Answer 20

Deep blue sclera

Question 21

Defects of outer ear are associated with

Answer 21

renal abnormalities and hearing problems

Question 22

Potter sequence

Answer 22

Oligohydramnios causes intrauterine constraint of the fetus and pulmonary hypoplasia.
Physical findings include refractory respiratory distress, pneumothoraces, clubfeet, hyperextensible fingers, large ears, low inner eye folds, and a beak nose, anuria.
Associated anomalies include congenital heart defects, Eagle–Barrett syndrome, esophageal and duodenal atresias, imperforate anus, and Pierre Robin sequence.

Question 23

Eagle- barrett syndrome

Answer 23

Prune belly syndrome

absent abdominal musculature, urinary tract abnormalities, and cryptorchidism

Question 24

arthrogryposis sequence

Answer 24

Physical findings include joint contractures, extensions, and dislocations.
Assess for scoliosis and hip dyslocation

Question 25

Pierre Robin sequence

Answer 25

hypoplasia of the mandible, causing the tongue to be posteriorly located, resulting in severe upper airway obstruction and cleft palate.
Physical findings include micrognathia, cleft palate, and low-set ears. Respiratory distress secondary to upper airway obstruction may be present

Question 26

Fetal alcohol syndrome

Answer 26

short palpebral fissures; epicanthal folds; a flat nasal bridge; a long, simple philtrum; a thin upper lip; small hypoplastic nails; irritability in infancy; and growth deficiency. Associated anomalies are cardiac defects, ventricular septal defect being the most common, and microcephaly. Long-term effects include mental deficiency and behavioral problems.