| Craniofacial | | Hypertelorism | | Microcephaly | | High-arched palate | | Ear malformations | | Eyes | | Blue sclera | | Congenital cataracts | | Glaucoma | | Microophthalmos | | Strabismus | | Neck | | Fusion of the vertebrae with flaring of the trapezius muscle (Turner-like appearance) | | Elevation of the scapula (Sprengel deformity) | | Thumb | | Bifid thumb | | Duplication | | Subluxation | | Hypoplasia | | Absence | | Flat hypoplastic thenar eminence | | Weak/absent radial pulses | | Triphalangeal thumb* | | | Urogenital | | Dysplastic or horseshoe kidney | | Duplication of the ureters | | Renal tubular acidosis | | Cardiac | | Atrial and ventricular septal defects | | Hypogonadism | | Intellectual disability | | Other skeletal abnormalities | | Other anomalies | |
