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 ... |