[MIM 146 390]

(18p- syndrome, de Grouchy deletion 18p type 1 syndrome)

Prevalence: 1-9/100,000. Contiguous gene syndrome resulting from the deletion of variable part of the distal portion of the short arm of chromosome 18. In two-thirds of the cases, this is a de novo terminal deletion. In the other cases, it may be a de novo translocation with loss of 18p, mis-segregation of a translocation or parental inversion, or a ring chromosome 18.

Clinical presentation:

-        short stature

-        a round face (which lengthens in adolescence) with a short philtrum, wide mouth, ptosis and large, protruding ears.

-        sometimes: hypoplasia or aplasia of the pituitary gland

Mental retardation is moderate. 10-15 % of patients have severe holoprosencephaly malformations of the brain and face.

Anesthetic implications: 

check endocrine status, short stature

References : 

Updated: August 2023