Genetic Syndromes

Question 1

MR, cleft lip/Palate, holoProsencephaly, Polydactyly, rocker-bottom feet, death by 1 y/o

Answer 1

Patau (trisomy 13)

Question 2

MR, VSD, micrognathia, clenched hands, rocker-bottom feet, death by 1 y/o

Answer 2

Edward (trisomy 18)

Question 3

MR, flat facies, epicanthal folds, simian crease, AVSD (endocardial cushion defect), GI issues (Hirschsprung dz, duodenal atresia), ↑↑incidence of ALL, Alzheimer by 40 y/o; high-risk in women >35 y/o [note: Down syndrome + UMN sx = atlantoaxial instability]

Answer 3

Downs (trisomy 21)

Question 4

Males-only, MR, Macrognathia, Macroorchidism, Mitral valve prolapse

Answer 4

Fragile X syndrome (CGG trinucleotide repeats)

Question 5

MR, elfin facies, extreme friendliness, English skills, hypercalcemia, CV defects (supravalvular aortic stenosis)

Answer 5

WIlliams syndrome (7qdeletion)

Question 6

MR, high-pitched “mewing” cry, microcephaly, epicanthal folds, CV defects

Answer 6

Cri-du-chat syndrome (5p deletion)

Question 7

Cleft palate, Abnormal facies, Thymic aplasia (no T-cells), CV defects, Hypocalcemia

Answer 7

DiGeorge (22q11 deletion)

Question 8

long legs, small balls, gyno, high-pitched voice

Answer 8

Klienfelter (47 XXY)

Question 9

males that are aggressive, antisocial behavior

Answer 9

47, XYY males

Question 10

Coarcted aorta, Lymphedema (knuckle-knuckle-dimple- knuckle), Ovarian dysgenesis, Webbed neck (cystic hygroma), Nipples spread (shield chest), Short stature

Answer 10

Turner’s (45, XO)

Question 11

phenotypically similar to Turner syndrome but AD (males = females), associated w/ pulmonic stenosis rather than aortic coarctation

Answer 11

Noonan syndrome

Question 12

verbetral defects, Anal atresia, CV defect, TE fistula, Esophageal atresia, Renal/Radial defects, Limb defects

Answer 12

VACTER

Question 13

“happy puppet syndrome” – MR, ataxia, flailing arms, outbursts of laughter

Answer 13

angelMan (Maternal 15q11 del)

Question 14

MR, hypotonia, hyperphagia/obesity, hypogonadism, “almond eyes”; Tx GH replacement + dietary caloric restriction


Answer 14

Prader-Wilis (Paternal 15q11 del)

Question 15

MR, bushy eyebrows + hirsutism, limb defects, self-injurious behavior

Answer 15

Cornella de Lange syndrome

Question 16

elongated body habitus, MVP, aortic aneurysms, aortic dissection, lens subluxation

Answer 16

Marfans (mut in fibrillin)

Question 17

thin fragile skin, joint hypermotility/dislocations, MVP, aortic aneurysms, aortic dissection

Answer 17

Erlos Danlos (mut in type 3 collagen)

Question 18

generalized overgrowth, large tongue, neonatal hypoglycemia, certain cancers (Wilms tumor, hepatoblastoma (Dx ↑AFP))

Answer 18

Beckwith-Wiedenmann syndrome

Question 19

upper limb abnormalities (hypoplastic thumb, hypoplastic radii, missing pectoralis major) + cardiac abnormalities

Answer 19

Holt-Oram Syndrome

Heart-Arm syndrome

Question 20

long/narrow thorax → hypoplastic lungs, fibrotic liver, death due to pulmonary causes

Answer 20

Jeue syndrome (asphyxiating thoracisc dysplasia)

Question 21

craniosynostosis, wide-eyes w/ proptosis, “beak nose”

Answer 21

crouzon syndrome

Question 22

café-au-lait spots, Lisch nodules (iris hamartomas), optic gliomas, CNS tumors, pheos

Answer 22

NF 1

Question 23

bilateral acoustic neuromas, juvenile cataracts

Answer 23

NF 2

Question 24

CNS/retinal hamartomas, sebaceous adenomas, hypopigmented “ash leaf” spots, Shagreen patches, renal angiomyolipomas, cardiac rhabdomyomas

Answer 24

tuberous sclerosis

Question 25

facial “port-wine stain” w/ ipsilateral AVM (Dx head CT shows “gyriform calcifications”)

Answer 25

sturge weber

Question 26

Sturge-Weber syndrome + other commonly-associated defects; Posterior fossa tumors, Hemangiomas on face, Arterial abnormalities, Coarctation of aorta, Eye abnormalities, Sternal defects

Answer 26

PHACES syndrome

Question 27

bilateral RCC, hemangioblastomas, pheo

Answer 27

Von Hippel-Lindau Syndrome

Question 28

nephritic syndrome (hematuria), deafness, ocular defects

Answer 28

Alport syndrome (mutation in type 4 collagen)

Question 29

wide-eyes, broad nasal bridge, medial hyperplasia of eyebrows, white forelock (think Rogue), heterochromia, deafness

Answer 29

waardenburg syndrome

**assc with advnced paternal age

Question 30

short limbs but normal-sized torso (think Mini-me)

Answer 30

achondroplasia (mut FGF receptor)

Question 31

hypothalamic tumor → hyperactive feeding center (childhood obesity) + ↓GnRH secretion (secondary hypogonadism); similar to Prader-Willi syndrome

Answer 31

Frolich Syndrome

Question 32

obesity + MR, hypogonadism, polydactyly, retinitis pigmentosa → night blindness

Answer 32

Laurence-Moon-Biedl syndrome

Question 33

situs inversus (right-sided heart), recurrent pulmonary infx, infertility

Answer 33

Kartagener syndrome (mut in dyenin = immotile cilia)

Question 34

staggering gait + frequent falls, kyphoscoliosis, pes cavus, hammer toes; MCC death is hypertrophic cardiomyopathy

Answer 34

Friedreich ataxia (mut in frataxin)