| Syndrome |
Accompanying Cardiac Defects |
Additional Findings |
| CHARGE Syndrome |
ASD, VSD |
Retinal colobomas, choanal atresia, growth and developmental retardation, genital anomalies, ear anomalies, deafness. |
| Ellis-van Creveld Syndrome |
ASD |
Short limbs, short ribs, polydactyly, dysplastic nails and teeth. |
| Fryns Syndrome |
VSD |
Coarse facies, diaphragmatic hernia, hypoplastic nails and distal phalanges, usually lethal in newborn. |
| Holt-Oram Syndrome |
ASD, VSD, AVC |
Upper limb defects ranging from absent, hypoplastic, or triphalangeal thumbs to limb reduction defects, narrow, sloping shoulders. |
| Hydrolethalus Syndrome |
AVC |
Hydrocephalus, polydactyly, duplicated great toes, small eyes, small nose, oral clefts, unusually lethal in newborn |
| Kabuki Syndrome |
ASD, VSD |
Characteristic facies with long palpebral fissures, eversion of lower lids, cleft palate, hypotonia |
| Noonan Syndrome |
ASD, AVC |
Short stature, dysmorphic facies, excess skin folds nape of neck or webbed neck, hypertrophic
cardiomyopathy, cryptorchidism. |
Oral-facial-digital
(OFD) Syndrome II (Mohr Syndrome) |
AVC |
Pseudocleft of upper lip, lobate tongue, polydactyly, syndactyly, tachypnea, laryngeal anomalies. |
| Rubinstein-Taybi Syndrome |
ASD |
Microcephaly, beaked nose, broad thumbs and great toes. |
Simpson-Golabi-
Behmel Syndrome |
VSD |
Macroglossia, coarse facies, accelerated growth, polydactyly, arrhythmias. |
| Smith-Lemli-Opitz Syndrome |
AVC |
Microcephaly, anteverted nares, syndactyly of toes, polydactyly, hypospadias, cleft palate, elevated 7-dehydrocholesterol level |
| Thrombocytopenia-absent radius (TAR) Syndrome |
ASD, VSD |
Bilateral absence of radius with presence of fingers and thumbs, thrombocytopenia, other skeletal anomalies |
|
