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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