[MIM 146 390]

(Grouchy 18p deletion syndrome)

Prevalence: 1-9/100,000. Generally de novo partial deletion of the short arm of chromosome 18. The clinical presentation varies depending on the size of the deletion.

Clinical presentation:

• short stature
• round face with short philtrum, palpebral ptosis, wide mouth and large protruding ears; sometimes moderate microretrognathism
• short, webbed neck (sometimes mistaken for Turner syndrome)
• moderate mental retardation: difficulties for learning language
• cerebral malformation of the holoprosencephaly type in 10-15 % of the cases
• kyphoscoliosis, pectus excavatum
• sometimes hypopituitarism with hypoplasia of the hypothalamus and pituitary gland
• cardiac, ocular, limb, genital abnormalities

Anesthetic implications: 

echocardiography, check blood electrolytes and cortisol level

References : 

-          Turleau C.
Monosomy 18p.
Orphanet J Rare Dis 2008, 3:4 doi:10.1186/1750-1172-3-4

Updated: February 2023