Summary of the physical characteristics of the proband
| Skull and facial bones | Brachycephaly | |
|---|---|---|
| Plagiocephaly | ||
| Midface hypoplasia | ||
| Eyes | Bilateral ptosis | |
| Left divergent strabismus | ||
| Hypertelorism | ||
| Epicanthic folds | ||
| Ears | Pointed helices | |
| Nose and mouth | Wide nasal bridge | |
| Short philtrum | ||
| Small, triangular mouth | ||
| Large, protruding tongue | ||
| Small chin | ||
| Delayed eruption of teeth | ||
| Neck | Short | |
| Redundant neck skin | ||
| Hands | Small hands | |
| Short, proximally inserted thumbs | ||
| Brachydactyly | ||
| Fifth finger clinodactyly | ||
| Feet | Small feet | |
| Hypoplastic toenails | ||
| Abdomen | Umbilical hernia | |
| Genitalia | Small penis | |
| Hypospadias | ||
| Shawl scrotum | ||
| Skin | Strawberry naevi | |