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 |