Pediatric Congenital and Hereditary Disease Flashcards
What is PKU
autosomal recessive
deficiency of phenylalanine hydroxylase
What is the management of PKU
avoid intake of phenylalanine (low protein diet)
what can congenital hypothyroidism cause
intellectual disability and poor growth
What is CAH
Congenital Adrenal Hyperplasia
defect in 21-hydroxylase leads to diminished cortisol synthesis, increased release of ACTH accululation of 17-hydroxyprogesterone
what are the forms of CAH
classic form: more severe, usu detected during infancy or screening
Non-classic (late onset): milder, presents in later childhood through early adulthood
What is the presentation of Classic form CAH
girls: ambiguous genitalia, can have salt wasting
Boys: salt-losing (adrenal crisis), non-self: early virilization
What is the presentation of non-classic form cAH
precocious puberty
short stature as adults - premature closure of growth plates
girls: hirsutism, menstrual issues, irregularities
what are signs of adrenal crisis with CAH
shock/severe hypotension
failure to thrive
vomiting, diarrhea, abdominal pain
low Na
High K
metabolic acidosis
low glucose
what is the management of CAH
pediatric endocrinology
what type of hearing loss is seen most often in neonates
sesorineural
What is Trisomy 21
Downs syndrome
chromosomal abnormality in live born children
What is Klinefelter’s syndrome
47 XXY (non-disjunction)
tend to be tall, long arms and legs, narrow shoulders
what is the presentation of Klinefelters syndrome
tall
narrow shoulders
infertility
small testes
gynecomastia
osteopososis in middle age
What is Turner’s syndrome
monosomy X: 45X
partial deletion of X chromosomes
only monosomy that allows survival to birth
What are common physical features with FragileX syndrome
prominent, broad forehead
large ears, long face
stabismus
prominent jaw, dental, crowding high arched palate
murmur/mitral valve prolapse
hollow chest
hypotonia/joint laxity
Scoliosis
macro-orchidism
what are symptoms of fragile x syndrome
autism spectrum disorders
intellectual disability
distinct facial features
what is one of the most common causes of inherited cognitive impairment/developmental delay
Fragile X
What is Prader-Willi Syndrome
due to deletion or inactivity of part of paternal chromosome 15
What is the presentation of neonatal Prader-Willi Syndrome
hypotonia (poor suck, failure to thrive)
almond-shaped eyes
small hands and feet
What is the presentation of Prader-Willi Syndrome in Childhood/adolescence
obesity (hyperphagia)
hypogonadism
developmental delay, cognitive impairmement
What is Angelman syndrome
maternal chromosome 15 - just like Prader-Willi but from mom
What is Marfan’s Syndrome
inherited connective tissue disorder
autosomal dominant
What major systems are involved with Marfans
Cardiac - AA
MSK - long, thin extremities, loose joints
eyes - dislocation of lens
spontaneous pneumothorax is common
What is Ehlers-Danlos Syndrome
collagen disorder
hyper-elasticity of skin and hypermobile joints
What is spina bifida
cleft in the spinal column due to neural tube defects
What is Anencephaly
congenital absence of a major portion of brain and skull
what is encephalocele
sac-like protrusion of brain and membrane thru skull opening
What are fetal alcohol spectrum disorders
fetal alcohol syndrome: most recognized
no exact dose-relationship
what are risk factors for fetal alcohol syndrome
older maternal age
binge drinking
What are the facial features of fetal alcohol syndrome
short palpebral fissures
thin vermillion border
smooth philtrum
What are the growth issues with fetal alcohol syndrome
poor prenatal and post natal growth
What are neurologic features with fetal alcohol syndrome
intellectrual disability
learning disabilities
developmental delay
behaviroal difficulty, hyperactivity
What environmental factors lead to cleft lip and palate
meds: seizure meds, MTX
smoking
alcohol
folate deficiency
What is DiGeorge Syndrome
22q11.2 deletion syndrome
associated with cleft palate
What are other clinical findings associated with DiGeorge syndrome
congenital heart disease
thymic hypoplasia: immune deficiency
hypocalcemia: from parathyroid hypoplasia
