2026 Pediatrics 2 P.04.02 Neonatal Disorders PDF

PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS PEDIATRICS LECTURE LECTURER: Dr. Eleanor Cuarte DATE: Sept. 9, 2024 TOPIC OUTLINE Introduction Newborn Screening Pro...

PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS PEDIATRICS LECTURE LECTURER: Dr. Eleanor Cuarte DATE: Sept. 9, 2024 TOPIC OUTLINE Introduction Newborn Screening Program of the Philippines Congenital Hypothyroidism Congenital Adrenal Hyperplasia Infant of Diabetic Mother Molecular Mechanisms of Malformations Dysmorphology Approach to a Dysmorphic Child INTRODUCTION CAUSES OF NEONATAL MORBIDITY & MORTALITY A massive 47% of under-five deaths occur in the neonatal period (first 28 days of life) Due to: HOW IS THE NEWBORN SCREENING PERFORMED? Ø Prematurity (41%) Ø Infection (16%) Blood sample Ø Asphyxia (15%) collection Analysis for the presence of the Ø Others (14%) (25th hr of >28 disorders screened Ø Congenital anomalies (14%) life of (NBS center) Ø Tetanus (2%) newborns) Ø Diarrhea (0%) Positive ENDOCRINE EMERGENCIES Confirmatory Negative 1. Congenital hypothyroidism test 2. Congenital adrenal hyperplasia (CAH) 3. Pituitary dwarfism (growth hormone deficiency) Positive No further testing 4. Primordial dwarfism 5. Transient hypothyroxemia of prematurity Appropriate treatment and referrals 6. Transient hyperthyroidism 7. Subcutaneous fat necrosis after a traumatic birth – hypercalcemia 8. Acute adrenal hemorrhage CONJENITAL HYPOTHYROIDISM (CH) 9. Disorders of sexual development DEFINITION 10. Transient neonatal diabetes mellitus A condition characterized by absence or deficiency of free thyroid hormone (T4) since birth NEWBORN SCREENING (NBS) à a substance the regulates body function Absent or deficient thyroid hormone leads to impaired An essential public health program of the DOH that growth, abnormal function of other organs and prevents catastrophic health consequences from inborn irreversible mental retardation disorders through: Incidence (female-male ratio): 2:1 à Early detection, diagnosis and treatment Increased risk in infants with Down’s Syndrome Mandated by law (RA 9288, Newborn Screening Act of 2004) or performed on a voluntary basis CAUSES Thyroid deficiency may result from: 1. Abnormality in thyroid gland development à dysgenesis or agenesis 2. Defect in thyroid hormonogenesis NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 1 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS 3. Transplacental passage of maternal medication LABORATORY WORK UP à anti-thyroid drugs or excessive iodine CONFIRMATION: 4. Maternal blocking antibodies or iodine Thyroid function tests: deficiency or excess Ø Low T4 5. Pituitary or hypothalamic abnormality Ø High TSH à Central or secondary/tertiary hypothyroidism X-rays for bone age are NOT TESTED IN NBS Ultrasound Thyroid scan PATHOPHYSIOLOGY TREATMENT Replacement of deficient thyroid hormone à L-thyroxine 5-15 ug/kg/day Maintain serum T4 in the normal range Referral to a pediatric endocrinologist OUTCOME Earlier diagnosis, treatment and follow-up of infants with CH have resulted in major improvement in their mental development Intelligence quotient (IQ) of children detected CLINICAL MANIFESTATIONS through screening is normal Babies with CH usually appears normal at birth and grow GOLDEN PERIOD OF SCREENING: 4 WEEKS normally, even if untreated for the 1st 3-4 weeks of life Replacement of thyroid hormone must be started Ø Fetus with CH is protected by placental transfer of before 4 weeks of ages maternal thyroid hormone The earlier the better Clinical manifestations of more SEVERE CH CONJENITAL ADRENAL HYPERPLASIA(CAH) lethargy, inactivity, hypotonia, NEUROLOGIC hoarse voice or poor cry, DEFINITION decreased reflexes A family of inherited disorders of the adrenal cortex apnea, difficulty of breathing, that impair steroidogenic enzyme activity essential RESPIRATORY noisy respiration, choking for cortisol biosynthesis spells when feeding 21⍺ -hydroxylase constipation, feeding difficulties, large tongue, poor Ø most common deficient enzyme GIT suck, delayed dentition, The cortex of the adrenal glands produces 3 major jaundice, abdominal distention, hormones: umbilical hernia hormone that helps the large anterior and posterior CORTISOL body cope during periods SKULL AND fontanels with delayed closure, of stress FACE depressed nasal bridge, narrow controls and maintains forehead ALDOSTERONE normal salt and water mottled skin, thick dry or cold balance skin, pallor, puffiness around SKIN male sex hormones, the eyes, coarse brittle scanty ANDROGENS important for normal sex hair (TESTOSTERONE) differentiation CAUSES Late manifestations Due to a defect in the genes coding for enzymes involved in the Ø Mental retardation production of hormone by the adrenal glands Ø Growth retardation Abnormal genes are inherited from the both parent Ø Delayed skeletal maturation (autosomal recessive inheritance) Ø Delayed dental Both parents are carrier development and tooth Ø Unaffected but passes on the risk or tendency of eruption having the disease to the offspring Ø Delayed puberty à Each child has a 1 in 4 (25%) chance of getting the disease NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 2 | 21  PCCSOM 2026 PEDIATRICS 2 PATHOPHYSIOLOGY P.04.02 NEONATAL DISORDERS Ø IN BOYS: not obvious Normal at birth CHOLESTEROL Enlarged penis Deeply pigment scrotum 17 Hydroxy Progesterone Early appearance of masculine characteristics, Progesterone Androstenedione such as: ❌ 21⍺ - OHD ❌ 21⍺ - OHD ❌ 21⍺ - OHD - deep voice ¯ ALDOSTERONE ¯ CORTISOL ­ ESTRADIOL - muscular build - Adam’s apple *21⍺- hydroxylase Early appearance of pubic or axillary hair Early growth spurt MAIN FEATURES OF CAH Hormone Defect Effect 3.“Mild, nonclassic” CORTISOL Deficiency ¯ blood sugar ¯ Serum Na Patients have relatively mildly elevated levels ALDOSTERONE Deficiency ­ Serum K of androgens Masculinization in May be asymptomatic or have signs of TESTOSTERONE Excess females androgen excess at any time after birth SPECTRUM OF DISEASE 1.”classic, severe” SALT-WASTING (SW) FORM 2..”classic, less severe” SIMPLE-VIRILIZING (SV) FORM 3. “mild, nonclassic” forms 1. Salt-wasting (SW) form Classic, most severe Clinical manifestations Ø ADRENAL CRISIS (1s-4th week) aldosterone manifest as: - poor feeding - hypoglycemia ▼ A. 6 y/o girl with congenital virilizing adrenal hyperplasia; - vomiting B. clitoral enlargement and labial fusion; C. her brother, not - loose stools or diarrhea considered abnormal - weak cry - hyponatremia MANIFESTATIONS - failure to thrive - dehydration Late manifestations - lethargy Ø Early sexual maturation and bone maturation Ø If untreated Ø Accelerated growth during childhood but would circulatory collapse, shock, and death are inevitable eventually end up with SHORT ADULT STATURE Ø “Skin puberty” pubic hair growth, oily skin “body 2. Simple-virilizing (SV) odor”, dark skin color Classic, less-severe LABORATORY WORK UP Patients are able to synthesize adequate amounts of ¯ Blood sugar aldosterone but have elevated levels of androgens of adrenal ¯ Serum Na origin Clinical manifestations ­ Serum K Ø IN GIRLS: can be obvious Acidosis ­ 17OHP and testosterone Abnormal external genitalia: - enlargement of the clitoris TREATMENT - fused labial folds Lifelong replacement of deficient cortisol and - darkly pigmented labia - presence of rugae aldosterone à incorrect male assignment in female Ø Hydrocortisone 5-15 mg/m²/day Excessive hair on the face, extremities and/or chest Ø Fludrocortisone 0.05-0.1 mg/day Early appearance of pubic or axillary hair Correction of dehydration and acidosis Deepening of the voice Salt supplementation Ø Sodium chloride 1-3 gm/day Menstrual irregularities NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 3 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS Refer to/coordinate with endocrinologist for optimum treatment CLASSIFICATION OF DIABETES (American Diabetes Association) Reconstructive surgery for patient with abnormal CLASS DESCRIPTION genitalia Type I DM Psychological support I (B cell destruction/Insulin deficiency) Immune mediated/Idiopathic GOLDEN PERIOD OF SCREENING: 1ST WEEK Type II DM II (Insulin resistance/deficiency) Should be screened within 1st week of life III Other specific types IV Gestational Diabetes Mellitus Table 2. White's Classification of Diabetes in Pregnancy (Modified) Gestational Abnormal glucose tolerance test, but diabetes euglycemia maintained by diet alone: If diet alone Insufficient, insulin required Class A Diet alone, any duration or age of onset Class B Age of onset: >20 y duration: 500 mg/d proteinuria Class RF Criteria for both classes R and F coexist Class H Arteriosclerotic heart disease clinically evident DIABETES IN PREGNANCY Class T Prior renal transplantation DIABETES MELLITUS Increased Perinatal Morbidity and Mortality A group of metabolic diseases, all having § Before 1921: Discovery of insulin hyperglycemia in common, that result from defects in Diabetic women rarely reached reproductive insulin secretion, insulin action or both age or survived pregnancy (65%) Classification of diabetes § At present (2-5%) o Type 1 insulin dependent Increase risk for periconceptual, fetal, neonatal o Type 2 non-insulin dependent and long-term morbidities o Gestational DM MODIFIED WHITE’S CLASSIFICATION EPIDEMIOLOGY OF DM IN PREGNANCY 3-10% of pregnancies are complicated by CLASS DESCRIPTION Onset during pregnancy abnormal glucose control A1 80%: Gestational DM Treated with diet only Onset during pregnancy 20% Pre gestational DM A2 Requiring insulin therapy One of the most common medical complications of Onset at ≥20 years old pregnancy, with an incidence of 3-4% B 95%) Unstable fetal glucose metabolism Ø Higher weight than length and head percentile Hyperglycemia Hypoglycemia Mother Ø Excellent marker for detecting the infant at risk for ⬇ ⬇ other neonatal morbidities Hyperglycemia Hypoglycemia Infant Hyperinsulinemia Small for Gestational age (SGA) or Intrauterine Growth ⬇ ⬇ Restriction (IUGR) ⬆ Growth ⬇ Growth Infant Ø maternal vascular complications ⬆ Fetal mortality 2. BIRTH INJURIES 2. GROWTH Shoulder dystocia MACROSOMIA Ø Baby’s shoulder is caught behind mother’s pubic Occurs after the 32 weeks symphysis (or pubic ramus) preventing delivery Weight >95% for gestational age Ø The brachial plexus may become stretched and Due to a combination of increase glucose and insulin damaged when force is applied levels Decreased growth in the first trimester small subgroup is at risk for SGA Decreased growth of specific organ system: small left colon syndrome Delayed functional maturation of many fetal organs (lungs): RDS 3. FETAL OXYGENATION Maternal hyperglycemia Altered oxygen transport Placental vascular insufficiency Fetal hyperglycemia & hyperinsulinemia Increased fetal total body oxygen consumption (30%) Erythropoiesis Altered fetal iron metabolism Fetal hypoxemia Metabolic acidosis Death NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 6 | 21  PCCSOM 2026 PEDIATRICS 2 3. ABNORMAL GLUCOSE METABOLISM P.04.02 NEONATAL DISORDERS MATERNAL HYPOGLYCEMIA METABOLIC ADAPTATION AT BIRTH ⬇ 1. At birth, the newborn must initiate endogenous glucose production to meet its need of 5-8 Fetal hypoglycemia Fetal hyperinsulinemia mg/kg/min by: ⬇ o 3-5x in glucagon and catecholamines At birth: sudden interruption of glucose which initiates glycogenolysis ⬇ o High endogenous growth hormone and Neonatal hypoglycemia cortisol which facilitate gluconeogenesis o Insulin secretion is blunted so there is low concentration of insulin 4. HYPOGLYCEMIA 2. With feeding, there is induction of ketogenesis Practical definition: hypoglycemia is plasma glucose to spare glucose for brain consumption and 79% transfusion NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 8 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS Ø Resuscitation and support are required at birth NBS CONTINUATION… Ø APGAR is below 7 at 5 minutes of life OBJECTIVES OF THE ROUTINE EXAM OF NEWBORN Ø PE and neuroevaluation is abnormal at anything 1. Determine if any of the wide range of non-acute neonatal problems are present and initiate their management or GUIDELINES IN THE NEWBORN’S PE reassure parents 1. A quick initial PE of all newborn should be performed in 2. Check for potential problems arising from maternal the delivery room and all newborn should undergo a distress, familiar disorders, or problems detected during complete physical examination after the 90 hours of pregnancy life 3. Detect congenital anomalies not already identifies at birth § The first routine examination usually reveals more (e.g., CHD, DDH) abnormalities than any other routine examination 4. Provide an opportunity for the parents to discuss any § The first PE occurs immediately after the birth in questions about their infant the assigning of the APGAR score, designation of 5. Initiate health promotion for the newborn gender and a cursory inspection of major anomalies EVALUATION OF THE NEWBORN MOST COMMON ANOMALIES NOTED ON INITIAL EXAM WHEN Frequency PE at birth (1st 10 minutes) – EINC Anomaly (per 1000 birth) Ø APGAR score Skin tags 10-15 Ø Evaluation during resuscitation Polydactyly 10-15 PE during the 1st 90 minutes of life – EINC Cleft lip or palate 1-4 Complete PE of the newly born Congenital heart defects 1-4 Ø Remember that the last step in the 4 core steps of Congenital hip dislocation 1-4 Down’s Syndrome 1-4 EINC is the non-separation of the newborn from the Talipes equinovarus 1-4 mother to initiate breastfeeding. Once the baby Spina bifida, anencephaly or finishes breastfeeding, that’s the only time you can 1-4/10,000LB encephalocoele separate the baby for the other procedures that you are supposed to do. (Dr Cuarte) 2. The PE of newborn should be tailored to fit both the gestation age and the postnatal condition of the infant Ø Includes: § Definitive examination in healthy infants should 1. Anthropometric measurements take place after initial transition and EINC 2. BALLARDS SCORE (AOG) § In acutely ill infants, the complete examination o tool used to assess how old the baby is can be delayed after initial resuscitation and baby in terms of weeks is stable o By using this, we can tell if the baby is premature or not 3. Take note and document all aspects of the physical 3. Fenton growth charts exam including birth injuries and insults, for future o Where the anthropometric measurements reference are plotted o To classify if the baby is small for age or 11 MOST COMMON BIRTH INJURIES AND INSULTS large for age 1. Lacerations or scalpel injury 2. Cephalhematoma and subgleal hematoma PE of the newborn beyond the 1st day and at discharge 3. Hematomas (bruises), ecchymosis or petechiae 4. Broken clavicle CLASSIFY THE NEWLY BORN INTO 5. Facial palsy Well if 6. Brachial plexus injuries (esp. Erb’s palsy) 7. Fractures of the humerus or skull Scalp Ø Term 8. lesions from forceps or probes Ø normal wt 9. Umbilical cord accidents Ø AGA (appropriate for gestational age) 10.Testicular trauma Ø PE is normal 11. Ruptured internal organs Sick if: Ø Based on anthropometric measurements, § Fractures of the humerus are only seen through X-rays Ballards score, and Fenton growth chart – § If the newborn cannot move his/her extremity or preterm, LBW, LGA the head, suspect difficult delivery. NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 9 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS 4. The examiner should introduce him/herself to parents SONIC HEDGEHOG (shh) PROTEIN and explain the purpose of the examination. Discovered by Dr Robert Riddle which was found in a 5. The newborn should be examined in a private, warm, fruit fly – eventually, that protein looks like the and well lighted area using warm stethoscope cartoon movie Sonic Hedgehog therefore naming it § Instruments should be clean and warm that way 6. Thorough handwashing should be done before and functions as a chemical signal that is essential for immediately after the newborn’s examination. The embryonic development hands should be warm before touching the baby. plays a role in 7. The examiner should be thorough, but gentle and Ø cell growth quick. Ø cell specialization Ø normal shaping (patterning) of the body OUTLINE OF THE PE OF THE NEWBOEN important for development of the CNS, eyes, limbs, 1. Date and time of Examination and many other parts of the body 2. Vital signs found in chromosome 7 Rectal Axillary Temperature Oral Ear canal Respirations Normal: 40-60 bpm Cardiac or Normal: 120-160 bpm pulse rate (100- 180) Not routine in well babies; important for sick babies Blood pressure especially with cardiac problem 3. Overall appearance § General appearance Ø Observing the infant is the most important DYSMORPHOLOGY aspect of the physical exam Ø Includes symmetry, general proportion, activity, DEFINITION OF TERMS general color, obvious congenital anomalies Dysmorphology Ø Skin: color, bleeding, mottling, benign lesions Ø Study of differences in human form and the 4. Assessment of gestational age mechanism that cause them 5. Anthropometric measurements Birth defect 6. Organ Systems Ø Any morphological abnormality present at birth 7. Neurologic Examination (congenital) Ø May have a genetic basis or environmental induced Ø Divided into: MOLECULAR MECHANISMS OF MALFORMATIONS 1. Isolated (single): malformation, dysplasia, deformation, or a disruption SONIC HEDGEHOG SIGNALING PATHWAY 2. Multiple defects in an individual Developmentally important during embryogenesis to induce controlled proliferation in a tissue-specific 4 MAJOR TYPES OF PROBLEMS IN MORPHOGENESIS manner 1. MALFORMATION Disruption of specific steps in this pathway results in a Structural defect from a localized error in variety of related developmental disorders and morphogenesis resulting to the abnormal formation malformations of a tissue or organ a system of genes and gene products, mostly proteins, 2. DEFORMATION that convert one kind of signal into another, called An alteration in shape or structure of an organ that transduction. has developed or differentiated normally Congenital anomalies are a product of mutations or 3. DISRUPTION problems in the SHH signaling pathway Defect resulting from the destruction of a structure SONIC HEDGEHOG (SHH) GENE that had formed normally before the insult Provides instructions for making the protein, Sonic 4. DYSPLASIA Hedgehog Abnormal organization of cells into tissues CLASSIFICATIONS OF MULTIPLE MALFORMATIONS NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 10 | 21  PCCSOM 2026 PEDIATRICS 2 1. SYNDROME P.04.02 NEONATAL DISORDERS A pattern of multiple abnormalities that are related by pathophysiology, resulting from a single defined etiology Example: down syndrome 2. SEQUENCE Caused by a single event although the sequence itself can have a different etiology 3. ASSOCIATION Non-random groupings of malformation in which there is an unclear/unknown relationship among them thus do not fit the criteria for a syndrome or à POLYDACTYLY - example of SHH signaling sequence pathway that has gone wrong Example: VACTERL association V: vertebral defects DEFORMATIONS A: anal atresia Many deformations involve the musculoskeletal C: cardiac defects system T: trachea- 2 major intrinsic causes of deformations are E: -esophageal fistula 1. Primary neuromuscular disorders R: renal anomalies 2. Oligohydramnios (decreased amniotic fluid) L: limb abnormalities DISRUPTIONS Caused by destruction of a previously normally formed organ or body part 2 mechanisms: 1. Entanglement followed by tearing apart or amputation of a normally developed structure by strands of amnion floating within the amniotic fluid 2. Interruption to the blood supply to a developing part which can lead to infarction, necrosis, and resorption of structures typically involves A. Anencephaly, B. Holoprosencephaly, C. Myelomeningocele, D. Posterior atresia or absence of a body part encephaloceles, E. Anterior encephaloceles, F. Orbital encephaloceles. Unfortunately, when babies have these, the brain development is abnormal. Generally called the NEURAL TUBE DEFECTS. (Dr. Cuarte) MALFORMATIONS AND DYSPLASIA Can be caused by gene mutations, chromosomes aberrations and copy number variants, environmental factors, or interactions between genetic and environmental factors May developmental abnormalities that are caused by deleterious sequence variants in a single gene display characteristic Mendelian patterns of inheritance NORMALLY, the upper limb forms from about 28 days of gestation to about 56 days of gestation- that’s right from 4 to 8 weeks of gestation. Many women may not even be aware of pregnancy at that time. By the 8-week point, the arm and hand are in an amazingly, fully formed state. NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 11 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS SKIN BENIGN SKIN CONDITIONS VS MALFORMATIONS Normal: 1 & 2 1. Vernix caseosa 4. Infectious lesions 7. Macular hemangioma - pustules, erythematous plaques, - Reddish/pinkish macular spots on the occipital vesicles, macules and papules area or lids 2. Meconium on skin 5. Mongolian spot 8. Transient Neonatal Pustular Melanosis - Benign - Pustules - dark blue or purple bruise-like - ruptured vesicopustules with scaling/typical halo macular spots over the sacrum appearance - hyperpigmented macules 3. Skin tags 6. Pigmented nevus - Skin malformation CONGENITAL MALFORMATIONS 1. Skin Aphasia (Cutis Aplasia) 2. Lymphedema - Possibly the baby’s limbs were pinched causing lymph to be infected - Some will resolve as soon as they are born NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 12 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS HEAD & NECK A. CRANIUM GENERAL SHAPE/SYMMETRY: microcephaly/macrocephaly, Due to birth Injury TWO* MOST COMMON FINDINGS AT BIRTH: Caput succedaneum & Cephalhematoma 1. Caput succedaneum* 3. Hydrocephalus 2. Cephalhematoma* à Diffuse àPossible cause is à Subperiosteal hemorrhage that edematous there could be an never extend across suture lines swelling of the obstruction in the soft tissues of pathway of the CSF the scalp that à accumulation of may extend fluid across suture lines àUsually seen the presenting part FONTANELLES NEURAL TUBE DEFECTS (NTDs) AND OTHER CONGENITAL BRAIN MALFORMATIONS àAssess size of the fontanelles, Cloverleaf Skull” 1. Anencephaly their flatness, fullness or à a serious birth defect in which a baby is tenderness and the width of born without parts of the brain and skull the suture lines à a type of neural tube defect (NTD) à molding/overriding of the skull plates à tense/bulging fontanelles (may feel on palpation nearly equivalent to that of bone) 2. Holoprosencephaly - may be normal with vigorous crying à a condition that occurs in the first two - increase intracranial pressure or three weeks of pregnancy and results in à Associated prominent veins of the scalp, separated abnormal development of the brain à Absent fontanelles à typically, in the first few weeks of - CRANIOSYNOSTOSIS - premature closure of the skull pregnancy, the developing embryo begins sutures laying the structural groundwork for brain development Disorders sometimes associated with abnormal Fontanelles 1.Fontanelles too large 2. Fontanelles too small 3. Myelomeningocele 4. Orbital Encephalocele à Skeletal disorders à Hyperthyroidism à a defect of the backbone à a sac-like protrusion or (spine) and spinal cord projection of the brain and the o Hypophosphatasia à Craniocynostosis à Before birth, the baby's spine, membranes that cover it through an o osteogenesis imperfecta à Microcephaly opening in the skull the spinal cord and the spinal canal do not form or close à happens when the neural tube àChromosome abnormalities 3. Third fontanelle does not close completely during normally. A myelomeningocele is à Hypothyroidism à Downs syndrome pregnancy. the most serious form of spina à Increased intracranial à Hypothyroidism bifida. pressure, à hydrocephalus NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 13 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS B. HEAD 1. Craniosynostosis/ Facial clefts 4. Cyclopia 5. Anotia/ Microtia - a birth defect in which the bones in a - a clinical abnormality where fusion - birth defects of a baby’s ear baby's skull join together too early of both eyes can be seen in a single, - Anotia happens when the external - happens before the baby's brain is fully central orbit located in the middle ear is missing completely formed. As the baby's brain grows, the of the face - usually happens during the first few skull can become more misshapen - facial expression of the most severe weeks of pregnancy - The spaces between a typical baby's form of a congenital anomaly called - vary from being barely noticeable to skull bones are filled with flexible holoprosenchephaly syndrome being a major problem with how the material and called sutures ear formed Ano Micro tia tia 2. Anophthalmia 6. Unilateral Cleft Lip - are birth defects of a baby’s eye(s). - Cleft lip + cleft palate Anophthalmia is a birth defect where a - a common birth defect in which a baby's lip and palate (roof of mouth) don't form properly baby is born without one or both eyes. - As a result, there is a split or opening (cleft) on one side of the lip that can extend all the way from the nose to the back of the palate - Easy to repair - Challenge: baby’s breastfeeding 3. Microphthalmia - a birth defect in which one or both eyes did not develop fully, so they are small. NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 14 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS ABDOMEN C. FACE: Ears, eyes, nose, mouth Assess by inspection and palpation for 1. Face – symmetry organomegaly, masses, inflammation and distention 2. Ears § Flat/scaphoid abdomen – CDH o Low set ears § Visible gas/bowel pattern – ileus or obstruction o Preauricular ear tags Normal findings o Hairy ears § 1-2 cm liver edge palpated below the right 3. Eyes costal margin o Hypertelorism § A spleen tip overlying the stomach o Red reflex – cataracts § Lower pole of the left kidney in the pelvic gutter o Color Examine the umbilical stump for bleeding, abnormal o Hemorrhages vessels, increased or decreased Wharton jelly, 4. Nose meconium staining, granuloma, exudative discharge o Choanal atresia or inflammation o Sniffling and discharges 5. Mouth o Palate – clefts § Epstein pearls § Ranula o Natal teeth o Macroglossia o Salivation o Thrush Cystic hygroma / lymphangioma - Neck mass - Problem: airway - EXIT procedure: the baby is intubated before breathing to secure airway Omphalocoele - An abdominal wall defect - There is a sac that covers the intestine that came out - Sac may be ruptured - The umbilical cord is not there Chest and lungs - A birth injury due to rib fracture Gastroschisis - Has a normally located umbilical cord NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 15 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS Ambiguous genitalia L: Bladder exstrophy; R: Cloacal exstrophy (female) - Congenital adrenal hyperplasia o The clitoris is big because of testosterone that is produced UROGENITAL - Must do genetic test to know if it is a boy or girl As soon as the infant is born, the gender of the baby should be noted and the parents should be informed whether the baby is a boy or a girl. If there is a doubt about the gender (ambiguous genetalia). It is important not to guess but to inform the parents that further evaluation is require before deadline decision is made. Note of the maturational differences of the genetalia Assess penile strength and clitoral size Assess location of the urethral meatus and presence Hypospadias or absence of palpable gonads - The opening is located below o Hypospadias - Easy to repair o Undescended testis Check the perineum and nus EXTREMITIES o Imperforate anus with fistula Assessed by observation and palpation for obvious trauma, inflammation, and malformation Assess the hip for development dysplasia of the Hip (DOH) o Barlaw test o Ortolani test Brachial plexus: The four extremities should be checked for fractures and the joints for hypermobility and hypomobility Multiple contractures o Examine the digits for polydactylism, syndactylism, edema, unusual skin widge whorls and creases and unusual digit placement or contractures Imperforate anus - No normal anal opening Left: Pre-axial polydactyly Persistent cloaca Right: Post axial polydactyly - There is only one opening NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 16 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS Syndactyly - Fused fingers NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 17 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS SYNDROMES OTHERS Dwarfism - Genetically determined NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 18 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS PHYSICAL HISTORY APPROACH TO THE DYSMORPHIC CHILD Very important for the diagnosis of a dysmorphic PATTERN RECOGNITION syndrome One approach to the dysmorphic child Essential element: objective assessment of the Compares the manifestations in the patient against a patient’s clinical findings broad and memorized (or computerized) knowledge of Perform an organized evaluation of the size and human pleiotropic disorders formation of various body structures Appropriate for a small number of experienced dysmorphologists Relevant: 1. Size and shape of head GENETIC MECHANISM o Many children with Down Syndrome have Effective for clinicals who are not dysmorphology mild microcephaly and brachycephaly experts 2. Eye position and shape Clinical data are gathered and analyzed to diagnose o Useful signs for many disorders the patient in a straightforward case or initiate a referral to an appropriate specialist Categorize abnormalities as: 1. “major” birth defects MEDICAL HISTORY à Cause significant dysfunction or require Includes a number of elements related to etiologic surgical correction factors: 2. “minor” birth defects 1. Pedigree or Family history à Neither cause significant dysfunction nor à Necessary to assess the inheritance pattern, or require surgical correction lack thereof, for the disorder à A number of common birth defects have a IMAGING STUDIES complex or multifactorial genetic etiology Critical in diagnosing an underlying genetic etiology 2. Perinatal history Full skeletal survey: à Includes the pregnancy history of the mother à if short stature or disproportionate stature is o Useful for recognition of recurrent noted miscarriages that may be indicative of a Skeletal survey: chromosomal disorder à detect anomalies in bone number or structure that à Also includes factors that may relate to can be used to narrow differential diagnosis deformations or disruptions Brain imaging: o oligohydramnios à abnormal neurologic s/s such as microcephaly or à Maternal exposure to teratogenic drugs or hypotonia chemicals Echocardiography and renal ultrasonography: o Isotretinoin à useful to identify additional major or minor o Ethanol malformations that may serve as diagnostic cues 3. Phenotype DIAGNOSIS à Malformation syndromes caused by At this point, the physician has examined the child, chromosomal aberrations and single-gene identified atypical physical features, and obtained disorders are frequently static – meaning, appropriate imaging studies. although the patients can experience new The clinician should now attempt to organize the complications over time, the phenotype is findings to elucidate potential developmental typically not progressive processes. à Disorders that cause dysmorphic features If a child has multiple findings, a selection of the rarer or because of metabolic perturbations can be mild pathognomonic findings may be prioritized or may be apparent at birth, but they can Ø Example: patent ductus arteriosus (PDA), mild progress relentlessly, causing deterioration of growth restriction, mild microcephaly, and patient status over time holoprosencephaly, micropenis, and ptosis Ø PDA, ptosis, mild growth restriction, and mild microcephaly - considered to be largely nonspecific findings (present in many disorders or often present as NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 19 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS isolated features that are not part of a for diagnoses that have substantial genetic syndrome) heterogeneity (e.g., hearing loss) Ø holoprosencephaly and micropenis advantage of providing high coverage for the - present in fewer syndromes genes on the panel - not considered part of normal variation. Ø The clinician can therefore search for disorders 7. Exome sequencing that include both holoprosencephaly and For situations with diagnostic uncertainty micropenis. Example: investigation of a child with intellectual The search can be performed manually. disability and dysmorphic features Appropriate genetic testing can then be undertaken to there is no clinically recognizable pattern confirm the clinician’s hypothesis and verify the examines approximately 200,000 exons, or the 1– diagnosis. 2% of the DNA that comprises the coding regions LABORATORY STUDIES AND GENETIC TESTING of the genome. child can be critical to reach or confirm the correct diagnosis. A strong suspicion of a genetic diagnosis warrants Testing should not be performed indiscriminately, but consideration of testing to confirm the diagnosis, instead should be ordered thoughtfully after the facilitate patient treatment and anticipatory guidance, differential diagnosis has been considered. clarify recurrence risks, and enable carrier testing for relevant inheritance patterns. 1. Cytogenetic studies with Giemsa- banded (G-banded) chromosome analysis aka karyotyping MANAGEMENT AND COUNSELING was the gold standard previously performed in the Essential aspects of the approach to the dysmorphic evaluation of a dysmorphic patient patient enable copy number variant detection and, in the Benefits of early and accurate diagnosis case of SNP arrays, evaluation of loss of 1. Anticipatory guidance and medical monitoring heterozygosity of patients for syndrome- specific medical risks that can prolong and improve their quality of 2. FISH analysis life. Specific and sensitive test to identify chromosome 2. It provides data for appropriate recurrence risk deletion syndromes estimates. Genetic disorders may have direct the most sensitive methods for the detection of effects on only 1 member of the family, but the cytogenetic alterations associated with birth diagnosis of the condition can have implications defects and multiple congenital anomalies. for the entire family. One or both parents may be carriers; siblings may be carriers or may want 3. Molecular testing to know their genetic status when they reach for deleterious sequence variants that cause their reproductive years. pleiotropic malformation syndromes Recurrence risk provision is an important component of genetic counseling and should be 4. Next-generation sequencing included in all evaluations for families affected with led to the identification of innumerable novel birth defects or other inherited disorders genes revolutionized the testing that is now available for patients and families with intellectual disability, birth defects, or other suspected genetic diseases. 5. Sanger sequencing targeting Targets single or multiple axons Single nucleotide variants, exons, or genes 6. Panel testing more expeditious than Sanger sequencing multiple relevant genes can be interrogated for single nucleotide variants, gene deletions, and gene duplications NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 20 | 21  PCCSOM 2026 PEDIATRICS 2 P.04.02 NEONATAL DISORDERS Newborn Screening Facilities (NSFs) are the health facilities conducting sample collection for newborn screening. They are ADDITIONAL NOTES the frontline institutions in the implementation of the National Comprehensive Newborn Screening System. The NSF submits DISORDERS TESTED IN THE PHILIPPINES’ NBS CENTERS samples collected to Newborn Screening Centers. q Endocrine disorders 1. Congenital hypothyroidism The RA 9288 defines the establishment and accreditation of Newborn Screening Centers (NSC). 2. Congenital adrenal hyperplasia Newborn Screening Center is a facility equipped with a newborn laboratory that complies with the standards established by the q Amino Acid disorders National Institutes of Health (NIH) Philippines, and provides all 1. Homocystinuria required laboratory tests and recall/follow-up programs for 2. Hypermethioninemia newborns with heritable conditions. à aka Methionine Adenosine Transferase Presently, there are seven operational NSCs in the country: Deficiency 1. Newborn Screening Center – NIH at the University of the 3. Maple Syrup Urine Disease Philippines Manila 2. Newborn Screening Center – Visayas located at West Visayas 4. Phenylketonuria State University Medical Center, Iloilo City 5. Tyrosinemia Type I 3. Newborn Screening Center- Mindanao located at the 6. Tyrosinemia Type II, III Southern Philippines Medical Center, Davao City 4. Newborn Screening Center- Central Luzon in Angeles City, q Fatty Acid disorders Pampanga 1. Carnitine Palmitoyl transferase I deficiency 5. Newborn Screening Center- Southern Luzon in Tanauan City, 2. Carnitine Palmitoyl transferase II deficiency Batangas 3. Carnitine Uptake Deficiency 6. Newborn Screening Center- Northern Luzon in Batac City, Ilocos Norte 4. Glutaric Acidemia Type II 7. Newborn Screening Center – Central Visayas located at 5. Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency Eversley Childs Sanitarium and General Hospital, Cebu City 6. Medium Chain-Acyl-CoA Dehydrogenase Deficiency Newborn Screening Continuity Clinic refers to ambulatory clinic 7. Very Long Chain-Acyl-CoA Dehydrogenase based in a tertiary hospital identified by the Department of Health Deficiency to be part of the National Comprehensive Newborn Screening 8. Tri-functional Protein Deficiency System Treatment Network. It is equipped to facilitate continuity of care of confirmed patients in its area of coverage. There are q Organic Acid disorders 33 continuity clinics in the country located in tertiary and 1. 3-Methylcrotnyl CoA Carboxylase Deficiency government hospitals in 14 regions. Mimaropa region is being 2. Beta Ketothiolase Deficiency handled by PGH NCR; Caraga region is being handled by SPMC 3. Glutaric Acidemia Type I Region 11 and; BARMM is being handled by CRMC Region 12. 4. Isovaleric Acidemia SOURCE: 5. Methylmalonic Acidemia Centers & Facilities | Newborn Screening Reference Center. 6. Multiple Carboxylase Deficiency (n.d.). https://newbornscreening.ph/centers-and- 7. Propionic Acidemia facilities/?tab=overview q Urea Cycle Defect 1. Citrullinemia 2. Argininosuccinic Aciduria q Hemoglobinopathies 1. Alpha Thalassemia 2. Beta Thalassemia 3. Hemoglobin C 4. Hemoglobin D 5. Hemoglobin E 6. Sickle Cell Disease q Others 1. Galactosemia 2. Glucose-6-Phosphate Dehydrogenase Deficiency 3. Cystic Fibrosis 4. Biotinidase Deficiency NOTE TAKER: ABULENCIA | BALDOS | L | DOMINGO | SANTOS Page 21 | 21