microcephaly-deafness-intellectual disability syndrome

Rare Disease

MONDO:0007991

Also Known As

Kawashima-Tsuji syndromeKawashima Tsuji syndromemicrocephaly deafness syndromemicrocephaly-deafness syndromesyndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar faciessyndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies

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.