Hereditary and Congenital Conditions Flashcards
What are the most common identified disorders on newborn screen?
- Hearing loss
- Primary congenital hypothyroidism
- Cystic Fibrosis
- Sickle Cell Disease
- Medium chain acyl-CoA dehydrogenase deficiency
What is deficient in Phenylketonuria (PKU)?
Deficiency of phenylalanine hydroxylase –> converts phenylalanine to tyrosine
Autosomal recessive disorder
What is the management for PKU once identified on newborn screen?
Avoid intake of phenylalanine (low protein diet)
Without newborn screen, congenital hypothyroidism can be missed due to what physiologically?
Maternal T4 can cross the placenta and cause normal levels in the neonatal period
What is the treatment for congenital hypothyroidism once identified on newborn screen?
Consult to pediatric endocrinology for early thyroid replacement treatment (within 2-6 weeks of life)
*If missed can cause intellectual disability and poor growth
What are the two forms of congenital adrenal hyperplasia (CAH)?
Classic Form: more severe, usually detected by screening.
Non-classic (late-onset): milder, presents later childhood
What is being lost in classic form CAH?
Salt-losing: low Na, high K, low BP
*at risk for adrenal crisis
What is the presentation of non-classic CAH?
- Presents later childhood
- Precocious puberty
- Short stature as adults - premature closure of the growth plates
Girls: Hirsutism, menstrual issues, irregularities
What are the signs of adrenal crisis?
- Shock/severe hypotension
- Failure to thrive
- Vomiting, diarrhea, abdominal pain
- Low Na
- High K
- Metabolic acidosis
- Low glucose
What is the treatment of classic form CAH?
successfully managed by taking hormone replacement medications
What is the treatment of non-classic form CAH?
May not require treatment or only small doses of corticosteroids
What complications can arise from undetected hearing loss?
Can lead to delayed language, problems with behavior/social, poor school performance
What are some risk factors for sensorineural hearing loss in the newborn?
Prenatal:
- TORCH infections (CMV, syphilis)
- Maternal diabetes
- Prenatal medications
- Maternal drug abuse
Postnatal:
- VLBW
- Ischemia
- Severe hyperbilirubinemia
- Low APGARs
Prevalence of Trisomy 21 is dependent on what risk factor?
Maternal age (older age higher the risk)
What reflex is diminished to non-existant in Trisomy 21?
Moro reflex due to hypotonia
What is the name of the pathoneumonic spots found on the iris in patients with Trisomy 21?
Brushfield spots
What are some clinical features of Trisomy 21?
- Cognitive impairment
- Congenital heart disease
- GI tract abnormalities: duodenal atresia, TE fistula, celiac disease
- Refractive errors, strabismus
- Hearing loss
- Increased risk of dementia, leukemia, hypothyroidism
What are some classic presentational features of Klinefelter’s syndrome?
- Tall
- Narrow shoulders
- Infertility (azoospermia)
- Small testes
- Gynecomastia
What is the only monosomy that allows survival to birth?
Turner’s Syndrome
What are some clinical features of Turner’s Syndrome?
- Short stature
- Primary amenorrhea/ovarian failure
- Streak gonads
- Sheild chest (wide inter-nipple distance)
- Congenital lymphedema of hands and feet
What are some of the dysmorphic features of Turner’s Syndrome?
- Webbed neck
- Nail dysplasia
- High palate
- Short 4th metacarpal
- Low hairline
What are the cardiac abnormalities associated with Turner’s Syndrome?
- Coarctation of the aorta
- Bicuspid aortic valve
- Aortic root dilation
What is the presentation of Prader-Willi in the neonatal period?
- Hypotonia (poor suck, failure to thrive)
- Almond shaped eyes
- Small hands and feet
What is the presentation of Prader-Willi in childhood/adolescence?
What are some physical features?
- Obesity (hyperphagia)
- Hypogonadism (small testes, cryptorchism)
- Developmental delay, behavioral concerns
Short stature, almond shaped eyes
What are the major systems involved in Marfans?
- Cardiac: aortic aneurysms
- MSK: long, thin extremities, loose joints
- Eyes: dislocations of the lens (ectopia lentis)
- Respiratory: spontaneous pneumos are common
Should individuals with Marfan’s participate in sports?
No, high risk for dilation of the aortic root and aneurysms
***Only a cardiologist should clear patients for sports or physical activity
What are the two features that are a focus of the Ghent Criteria for diagnosing Marfan’s?
- Aortic root dilation
- Ectopia lentis
*Most characteristic
What are the clinical features of Ehlers-Danlos?
- Skin hyperextensibility
- Easy bruising
- Velvety fragile skin, poor wound healing (cigarette-paper scars)
- Joint hypermobility
What are some common cognitive disorders associated with Ehlers-Danlos?
- Severe tiredness
- Difficulty concentrating (ADD/ADHD)
What is the management of Ehler’s Danlos?
- Physical therapy
- NSAIDs, TCAs, and SNRI’s used for pain
- Muscle relaxants or magnesium to relieve muscle spasms
- Referral to pediatric cardiologist
Due to the high risk for this complication patients newly diagnosed with Ehlers-Danlos should be immediately referred to pediatric cardiology?
Risk for spontaneous rupture of vasculature or viscera
What are the three types of Spina Bifida?
- Occulta
- Meningocele
- Myelomeningocele
Is fetal alcohol syndrome considered a neural tube defect?
Yes, because alcohol interferes with B12 and folate
What is the treatment for Prader Willi?
Growth Hormone Replacement
Nutrition Management
