Syndromes
CHARGE
Coloboma and Cranial nerve defects (80-90%)
Heart defects in 75-85% (tetralogy of Fallot)
Atresia of the choanae (50-60%)
Retardation of growth (70-80%) and development
Genital underdevelopment due to hypogonadotropic hypogonadism
Ear abnormalities and sensorineural hearing loss (>90%)
Also cleft lip or palate, TOFistula
VACTERL-H
Vertebral anomalies
Anal atresia with/without fistula
Cardiac anomalies (e.g. VSD)
Tracheo-
Esophageal fistula with oesophageal atresia
Renal anomalies (urethral atresia with hydronephrosis)
Limb anomalies (polydactyly, humeral hypoplasia, radial aplasia and proximally placed thumb)
Hydrocephalus
Williams (Elfin)
Downs
Kabuki (Japanese makeup, elongated eyelids)
Fetal Alcohol Syndrome (Short palpebral fissures, smooth philtrum, thin upper lip)
mythical figures
leprechaunism (Donohue syndrome)
Craniofacial microsomia
- hemifacial microsomia
- Goldenhar syndrome (hemifacial microsomia, microtia, ocular dermoid cysts, and vertebral anomalies)
Potter sequence: oligohydramnios leading to club feet, pulmonary hypoplasia, carn