Microcephaly-deafness-intellectual disability syndrome
Microcephaly-deafness-intellectual disability syndrome
Definition
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.
Also known as Kawashima-Tsuji syndrome — per MONDO