Genetic Syndromes Flashcards
MR, cleft lip/Palate, holoProsencephaly, Polydactyly, rocker-bottom feet, death by 1 y/o
Patau (trisomy 13)
MR, VSD, micrognathia, clenched hands, rocker-bottom feet, death by 1 y/o
Edward (trisomy 18)
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]
Downs (trisomy 21)
Males-only, MR, Macrognathia, Macroorchidism, Mitral valve prolapse
Fragile X syndrome (CGG trinucleotide repeats)
MR, elfin facies, extreme friendliness, English skills, hypercalcemia, CV defects (supravalvular aortic stenosis)
WIlliams syndrome (7qdeletion)
MR, high-pitched “mewing” cry, microcephaly, epicanthal folds, CV defects
Cri-du-chat syndrome (5p deletion)
Cleft palate, Abnormal facies, Thymic aplasia (no T-cells), CV defects, Hypocalcemia
DiGeorge (22q11 deletion)
long legs, small balls, gyno, high-pitched voice
Klienfelter (47 XXY)
males that are aggressive, antisocial behavior
47, XYY males
Coarcted aorta, Lymphedema (knuckle-knuckle-dimple- knuckle), Ovarian dysgenesis, Webbed neck (cystic hygroma), Nipples spread (shield chest), Short stature
Turner’s (45, XO)
phenotypically similar to Turner syndrome but AD (males = females), associated w/ pulmonic stenosis rather than aortic coarctation
Noonan syndrome
verbetral defects, Anal atresia, CV defect, TE fistula, Esophageal atresia, Renal/Radial defects, Limb defects
VACTER
“happy puppet syndrome” – MR, ataxia, flailing arms, outbursts of laughter
angelMan (Maternal 15q11 del)
MR, hypotonia, hyperphagia/obesity, hypogonadism, “almond eyes”; Tx GH replacement + dietary caloric restriction

Prader-Wilis (Paternal 15q11 del)
MR, bushy eyebrows + hirsutism, limb defects, self-injurious behavior
Cornella de Lange syndrome
elongated body habitus, MVP, aortic aneurysms, aortic dissection, lens subluxation
Marfans (mut in fibrillin)
thin fragile skin, joint hypermotility/dislocations, MVP, aortic aneurysms, aortic dissection
Erlos Danlos (mut in type 3 collagen)
generalized overgrowth, large tongue, neonatal hypoglycemia, certain cancers (Wilms tumor, hepatoblastoma (Dx ↑AFP))
Beckwith-Wiedenmann syndrome
upper limb abnormalities (hypoplastic thumb, hypoplastic radii, missing pectoralis major) + cardiac abnormalities
Holt-Oram Syndrome
Heart-Arm syndrome
long/narrow thorax → hypoplastic lungs, fibrotic liver, death due to pulmonary causes
Jeue syndrome (asphyxiating thoracisc dysplasia)
craniosynostosis, wide-eyes w/ proptosis, “beak nose”
crouzon syndrome
café-au-lait spots, Lisch nodules (iris hamartomas), optic gliomas, CNS tumors, pheos
NF 1
bilateral acoustic neuromas, juvenile cataracts
NF 2
CNS/retinal hamartomas, sebaceous adenomas, hypopigmented “ash leaf” spots, Shagreen patches, renal angiomyolipomas, cardiac rhabdomyomas
tuberous sclerosis
