Version May 2024
| Anomaly | Frequency (percent) |
| Any physical abnormality | 60 to 75% |
| Skin – Generalized hyperpigmentation; hypopigmented areas; large freckles, café-au-lait spots | 40 to 60% |
| Short stature, delicate features | 40 to 60% |
| Upper limbs – Absent or hypoplastic thumb, supernumerary, bifid, clinodactyly | 35 to 50% |
| Gonads – Hypogenitalia, undescended/absent testes, hypospadias; bicornuate or malpositioned uterus | 25% (males) <5% (females) |
| Head – Microcephaly or hydrocephaly; birdlike face, mid-face hypoplasia, Sprengel's deformity of neck | 20 to 25% |
| Eyes – Microphthalmia, ptosis, epicanthal folds, strabismus | 20 to 40% |
| Kidney – Abnormal, ectopic, horseshoe, hypoplastic, or absent kidney; hydronephrosis | 20 to 30% |
| Ears – Deafness (usually conductive); low set ears, abnormal shape, narrow canal | 10 to 20% |
| Developmental delay | 10% |
| Cardiopulmonary anomalies – Congenital heart disease (patent ductus arteriosus, atrial or ventricular septal defects, coarctation, situs inversus) | 6% |
| Gastrointestinal anomalies – Atresias, imperforate anus, tracheoesophageal fistula, malrotation | 5% |
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