Chromosomal disorders6,7 Down syndrome (trisomy 21 syndrome) Seizure disorder (12%–15%); atlantoaxial instability (14%–22%); cataracts (15%); serous otitis media (50%–70%); deafness (75%); congenital heart disease (50%): ASD, VSD, AV canal, PDA, tetralogy of Fallot, pulmonary hypertension; GI atresias (12%); Hirschsprung's disease (1%); constipation, fecal impaction from medications or hypothyroidism; thyroid disease (15%); diabetes mellitus; leukemia (1%); acquired hip dislocation (6%); and psychiatric disorders (22%) Fragile X syndrome Recurrent serous otitis media (60% in males), strabismus (30%–56% in males), seizures (14%–50% in males), autism (16% in males), self-abusive, and mitral valve prolapse (22%–77% in males) Trisomy 18 Congenital heart disease (99%): VSD, ASD, and PDA Turner's syndrome (XO syndrome) Short stature in females, horseshoe kidney, heart disease (bicuspid aortic valve in 30%, coarctation of the aorta in 10%, valvular aortic stenosis, mitral valve prolapse, aortic dissection later in life, and hypertension) Noonan's syndrome Webbing of the neck, pectus excavatum, cryptorchidism, and pulmonic stenosis Disorders with facial defects as major feature Pierre Robin syndrome Micrognathia, glossoptosis, and cleft soft palate; primary defect: early mandibular hypoplasia Waardenburg's syndrome Lateral displacement of medial canthi, partial albinism, and deafness Occasional associations: VSD, Hirschsprung's disease, esophageal atresia, and anal atresia Treacher Collins syndrome Malar hypoplasia with downward-slanting palpebral fissures, defect of lower lid, and malformation of the external ear Disorders with limb defects as major feature Holt-Oram syndrome Upper limb defect, cardiac anomaly (ASD, VSD, arrhythmia), and narrow shoulders Fanconi's pancytopenia syndrome Radial hypoplasia, hyperpigmentation, pancytopenia, and renal anomaly Radial aplasia thrombocytopenia (TAR syndrome) Inherited metabolic disorders Phenylketonuria (autosomal recessive) Light pigmentation, eczema (33%), poor coordination, seizures (25%), and autistic behavior Hunter's syndrome (X-linked recessive) Developmental lag after age 6–12 mo, coarse facies, growth deficiency, stiff joints by age 2–4 y, clear corneas, and hepatosplenomegaly Hurler's syndrome (autosomal recessive) Developmental lag after age 6–10 mo, coarse facies, stiff joints, mental deficiency, cloudy corneas by age 1–2 y, hepatosplenomegaly, and rhinitis Connective tissue disorders Marfan's syndrome Arachnodactyly with hyperextensibility, lens subluxation, and aortic dilatation Ehlers-Danlos syndrome Hyperextensibility of joints, hyperextensibility of skin, and poor wound healing with thin scar Osteogenesis imperfecta congenital Short, broad, long bones; multiple fractures; and blue sclera Hamartoses Sturge-Weber sequence Flat facial hemangiomata and meningeal hemangiomata with seizures Tuberous sclerosis syndrome Hamartomatous skin nodules (thumb print macules), seizures, angiomyolipomata (45%–81%), phakomata, and bone lesions Neurofibromatosis syndrome Multiple neurofibromata, café-au-lait spots, presence or absence of bone lesions, seizures and/or EEG changes in 20%, cerebrovascular compromise, and headaches Environmental agents (toxins) Fetal alcohol syndrome Vision problems (94%), recurrent serous otitis (93%), hearing loss (66%), heart defects (29%–41%), renal hypoplasia, duplication of the kidney and collecting system, and bladder diverticula (10%) Other environmental exposures include fetal hydantoin syndrome, fetal trimethadione syndrome, fetal valproate syndrome, fetal warfarin syndrome, and retinoic acid embryopathy Trauma Traumatic brain injury Visual and hearing disturbances; cranial nerve damage; spasticity, incoordination, ataxia, and feeding disorders; GERD; neuropsychiatric disturbances Cerebral palsy Seizures (33%), strabismus (50%), hearing loss (10%), hip dislocation, scoliosis, contractures, gait disorder, GERD (8%–10%), chronic aspiration and recurrent RAD, pulmonary fibrosis and bronchiectasis Miscellaneous Angelman's syndrome (happy puppet syndrome) Puppet-like gait, paroxysms of laughter, and characteristic features; seizures vary from major motor to akinetic, beginning usually at age 18–24 mo Beckwith-Wiedemann syndrome Macroglossia, omphalocele, macrosomia, and ear creases; neonatal polycythemia and hypoglycemia in early infancy; associated with Wilms' tumor CHARGE syndrome Coloboma, heart disease (tetralogy of Fallot, PDA, double-outlet right ventricle with an atrioventricular canal, VSD, ASD, and right-sided aortic arch), atresia choanae, retarded growth and development and/or CNS anomalies, genital anomalies and/or hypogonadism, and ear anomalies and/or deafness Prader-Willi syndrome Mental retardation, hypotonia, hypogonadism, obesity, hyperphagia, gastric perforation, hypoventilation, obstructive sleep apnea, cor pulmonale, NIDDM, scoliosis, strabismus, inability to vomit, decreased sensitivity to pain, seizure disorder, hypoxia, right-sided heart failure, and pulmonary hypertension Rett's syndrome Hyperventilation, breath holding, air swallowing, bruxism, ataxia, muscle wasting, poor circulation, scoliosis, seizures, and intermittent flushing VATER syndrome Vertebral defects and VSD, imperforate anus, tracheoesophageal fistula, renal anomalies, and single umbilical artery Williams' syndrome Elfin-like syndrome, cardiovascular disease, supravalvular aortic stenosis, pulmonic stenosis, coarctation of the aorta, strabismus, joint contractures, hypertension, urethral stenosis, vesicoureteral reflux, constipation, ulcers, and hypercalcemia |