Genetic Syndrome Associations Flashcards
What cardiac abnormality is associated with William’s syndrome?
Supravalvular aortic stenosis
Can also see pulmonary stenosis
What is the cardiac abnormality associated with DiGeorge Syndrome?
- Most common cardiac finding is a VSD with other common findings including right sided aortic arch, conotruncal heart defects (including TOF most commonly but any cardiac outflow tract disorders), and aberrant subclavian arteries
What is the cardiac abnormality associated with Down Syndrome?
Most common cardiac lesions are endocardial cushion defects (ASD, VSD and AVSD*)
Can also have PDA, aberrant subclavian arteries, and pulmonary hypertension, mitral/aortic/tricuspid valve regurg
What is the cardiac abnormality associated with Turner’s Syndrome?
Most common cardiac anomaly is bicuspid aortic valve
Can also have coarctation of the aorta, cardiac conduction abnormalities, hypoplastic left-heart syndrome and other left-heart abnormalities, and aortic dissection later in life
What is PHACES Syndrome?
Posterior fossa malformation
Hemangiomas- large segmental facial lesions
Arterial abnormalities
Cardiac abnormalities- especially coarctation
Eye abnormalities
Sternal cleft
What is the inheritance of SMA?
Autosomal Recessive
What is the inheritance of DiGeorge Syndrome?
93% denovo mutations
AD inheritance of these mutations - in future generations
What are the clinical features of DiGeorge Syndrome?
CATCH-22 *deletion of 22q11 Cardiac- VSD, conotruncal abnormalities Abornmal facies- tubular nose Thymic hypoplasia- T cell abnormalities- wait to given live vaccines Cleft palate Hypocalcemia
What are the clinical features of McCune Albright Syndrome?
McCune-Albright Syndrome:
Syndrome of endocrine dysfunction associated with patchy cutaneous pigmentation and fibrous dysplasia of the skeletal system
Rare condition; classic cause of peripheral precocious puberty
Features include:
Precocious puberty→ predominantly in girls
Hyperthyroidism with multinodular goiters
Cushing syndrome may also occur – low ACTH, adrenal function not suppressed by exogenous steroids, may require adrenalectomy
Increased GH occurs uncommonly
Geographical hypopigmentation that respects the midline
What are clinical features of Klinefelter’s Syndrome?
“Male Turner’s Syndrome”
47 XXY
1 in 600 males
Puberty often begins at appropriate age, penile enlargement and pubic hair
Key finding is disproportionately small, firm testes, gynecomastia, infertility
Increased learning and behavioral difficulties
What are clinical features of Turner’s Syndrome?
Turner Syndrome Karyotype range from complete 45 XO to forms of mosaicism (eg 45 X,46 XX) 1 in 2000 live female births Mean adult height (untreated) 144 cm Growth hormone improves height Gonadal failure 96%, infertility 99%
Which syndrome is associated with hypercalcemia in the neonatal period in 10% of children?
William’s Syndrome
What are features of Noonan’s Syndrome?
Previous known as pseudo-Turner’s Syndrome
Hypertelorism, blue eyes, downward slanting palpebral fissures, webbed neck, pectus excavatum, may have delayed puberty (cryptoorchidism, small penis)
May have lymphedema of the hands and feet
Heme- may have coagulopathy
What are features of CHARGE syndrome?
Coloboma of the eye +/- microphthalmia
Heart defects- conotruncal abnormalities; arch abnormalities
Atresia- choanal atresia*
Retardation of growth
GU/GI- microphallus and other abnormalities
Ears- malformed helix, deafness; extremities- club foot, absent tibia
What are features of VACTERL?
Vertrebral abnormalities Anal atresia Cardiac defects Tracheoesophageal defects Renal abnormalities Limb abnormalities
*denovo mutations