epilepsy-microcephaly-skeletal dysplasia syndrome

Rare Disease

MONDO:0011048

Also Known As

Battaglia-Neri syndromeepilepsy - microcephaly - skeletal dysplasiaintellectual disability, microcephaly, epilepsy, and coarse facemental retardation, microcephaly, epilepsy, and coarse face

Definition

Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children.