Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Definition
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterized by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
Also known as Da Silva syndrome — per MONDO