|
Main clinical features observed in Monosomy 18p syndrome |
| Very frequent |
| mental retardation (variable severity) |
| speech delay |
| short stature |
|
|
| Frequent |
| variable features of the holoprosencephaly (HPE) spectrum |
| ptosis |
| flat nasal bridge |
| wide mouth with short upper lip |
| small mandible |
| excessive caries |
| large, protruding ears |
| short, webbed neck |
| broad trunk |
| pectus excavatum |
| kyphoscoliosis |
|
|
| Rare |
| behavioral disorders |
| autoimmune diseases |
| alopecia |
| dystonia |
Turleau Orphanet Journal of Rare Diseases 2008 3:4 doi:10.1186/1750-1172-3-4 |