Table 1 Main clinical features observed in Monosomy 18p syndrome

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