Version May 2024
| Anomaly | Frequency (percent) |
| Any physical anomaly | 75 |
| Nails* | 70 |
| Dystrophic | |
| Small, thin nail plates with ridges | |
| Skin* | 67 |
| Reticular pigmentation | |
| Oral leukoplakia* | 47 |
| Eyes | 29 |
| Lacrimal duct stenosis (causes tearing) | |
| Epiphora | |
| Blepharitis | |
| Proliferative and exudative retinopathy (Revesz syndrome; can cause retinal detachment) | |
| Strabismus | |
| Cataracts | |
| Absent eyelashes | |
| Corneal ulcers | |
| Hair | 19 |
| Alopecia or sparse hair and eyebrows | |
| Early graying and loss | |
| Teeth | 13 |
| Abnormally shaped or missing teeth | |
| Periodontitis | |
| Prone to caries | |
| Developmental delay | 13 |
| Gastrointestinal anomalies | 12 |
| Esophageal stenosis (8%) | |
| Hepatic fibrosis | |
| Skeletal | 12 |
| Short stature | |
| Osteopenia | |
| Avascular necrosis of the hip | |
| Head | 9 |
| Microcephaly | |
| Cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) | |
| Dandy-Walker malformation | |
| Cardiopulmonary | 7 |
| Pulmonary fibrosis | |
| Atrial or ventricular septal defect | |
| Genitourinary | 7 |
| Phimosis | |
| Meatal stenosis | |
| Hypospadias | |
| Penile leukoplakia |
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