[MIM 314 580]

(intellectual deficit-developmental retardation-contractures syndrome, X-linked intellectual deficit type 4, Wieacker-Wolff syndrome)

Incidence < 1/1.106. Sporadic or X-linked recessive transmission of mutations of the ZC4H2 gene (Xq11.2) that appear to play a role in neuronal function during fetal development.

Association:

-        congenital multiple arthrogryposis: hypotonia, sometimes neonatal respiratory distress, skeletal abnormalities: camptodactyly, hip dislocation, scoliosis, kyphosis, lordosis, equine or convex varus clubfoot. Frequent involvement of the muscles of the face (ptosis) and of the bulbar muscles (difficulty eating).

-        impaired intellectual development

-        and often facial dysmorphism: long and flat philtrum, low set ears, high ogival palate and "carp-shaped" mouth.

Sometimes: spasticity and convulsions, hypothyroidism, adrenal insufficiency.

Heterozygous female carriers may also be affected, but to a lesser degree (intellectual deficit, distal muscle weakness, camptodactyly, joint contractures and equinovarus feet).

Anesthetic implications: 

spasticity, contractures, check adrenal and thyroid functions.

References : 

-        Piccolo G, d’Annunzio G, Amadori E, Riva A,  Borgia P, et al.
Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Front Neurol, 2021, 12 July https://doi.org/10.3389/fneur.2021.704747

Updated: April 2022