Range of congenital anomalies observed in DBA
| Organ/system . | Anomalies . |
|---|---|
| Craniofacial | Hypertelorism, cleft lip and/or palate, high arched palate, microcephaly, micrognathia, microtia, low-set ears, low hairline, epicanthus, ptosis |
| Ophthalmologic | Congenital glaucoma, strabismus, congenital cataract |
| Neck | Short neck, webbed neck, Sprengel deformity, Klippel-Feil deformity |
| Musculoskeletal | Short stature, thumb (hypoplastic, duplex or bifid, triphalyngeal) syndactyly, flat thenar eminence |
| Urogenital | Kidney (absent, horseshoe), duplicated collecting systems, hypospadias |
| Cardiac | Ventricular septal defect, atrial septal defect, coarctation of the aorta, patent foramen ovale, tetralogy of Fallot, complex cardiac anomalies |
| Organ/system . | Anomalies . |
|---|---|
| Craniofacial | Hypertelorism, cleft lip and/or palate, high arched palate, microcephaly, micrognathia, microtia, low-set ears, low hairline, epicanthus, ptosis |
| Ophthalmologic | Congenital glaucoma, strabismus, congenital cataract |
| Neck | Short neck, webbed neck, Sprengel deformity, Klippel-Feil deformity |
| Musculoskeletal | Short stature, thumb (hypoplastic, duplex or bifid, triphalyngeal) syndactyly, flat thenar eminence |
| Urogenital | Kidney (absent, horseshoe), duplicated collecting systems, hypospadias |
| Cardiac | Ventricular septal defect, atrial septal defect, coarctation of the aorta, patent foramen ovale, tetralogy of Fallot, complex cardiac anomalies |
The list includes the anomalies that are most characteristic of DBA. Multiple anomalies are present in up to 25% of affected persons.