Version June 2024
| Head and craniofacial structures |
| Skull |
| Abnormal hair whorls (absence, more than 2) |
| Frontal bossing |
| Plagiocephaly |
| Flat occiput |
| Metopic fontanel |
| Eyes |
| Epicanthal folds |
| Hypotelorism |
| Hypertelorism |
| Upslanting or downslanting palpebral fissures |
| Short palpebral fissures |
| Synophrys |
| Ptosis |
| Ears |
| Ear lobe - attached, creases, notches, or bifid |
| Small ears (type I microtia) |
| Lop ear |
| Cup-shaped ear |
| Protruding ear |
| Ear tags |
| Preauricular sinuses |
| Nose |
| Flat bridge |
| Anteverted nostrils |
| Philtrum long, short, flat |
| Mouth and jaw |
| Microstomia |
| Macrostomia |
| Bifid uvula |
| Multiple frenula |
| Micrognathia |
| Retrognathia |
| Neck |
| Short neck |
| Webbing |
| Redundant skin |
| Branchial sinuses |
| Chest |
| Extra nipples |
| Widely spaced nipples |
| Low-placed nipples |
| Back |
| Sacral dimple |
| Genitalia |
| Shawl scrotum |
| Vaginal tags |
| Minor hypospadias |
| Extremities |
| Arms |
| Cubitus valgus |
| Dimples over major joints |
| Hands |
| Fifth finger clinodactyly |
| Single transverse palmar crease |
| Bridge crease |
| Tapered fingers |
| Nail hypoplasia |
| Persistent finger pads (fetal pads) |
| Feet |
| Partial syndactyly between 2 to 3 toes |
| Nail hypoplasia |
| Prominence of the heels |
| Overlapping digits |
| Skin |
| Nevi |
| Hypo- or hyperpigmented macules |
| Hemangioma |
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