/progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Rare Disease

MONDO:0014714

Also Known As

SCBMSseizures, cortical blindness, microcephaly syndromeseizures, cortical blindness, and microcephaly syndrome

Definition

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal.