Battaglia-Neri syndrome

Alternate names

Epilepsy - microcephaly - skeletal dysplasia

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.

NIH genetic and rare disease info

NIH info on Battaglia-Neri syndrome

Battaglia-Neri syndrome is a rare disease.

Resources

Frequently asked questions

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Battaglia-Neri syndrome
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