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 | |