Families

Lethal Congenital Contracture Syndrome type 7 (LCCS7) and Congenital Hypomyelinating Neuropathy type 3 (CHN3) are rare autosomal recessive diseases, associated to a CNTNAP1 mutation. It combines severe neonatal hypotonia, to polyhydramnios and congenital hypomyelinating neuropathy, along with severe respiratory insufficiency often requiring tracheostomy, and developmental delay. Survival beyond early infancy is almost uncommon. However, early extensive medical care has recently proven to elongate life expectancy, up to late childhood. Treatments have yet to be developed.