Name: Seizures, cortical blindness, microcephaly syndrome | Acronym: SCBMS
Alt. names: DIAPH1 deficiency | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Gene: DIAPH1 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 16 | First reported in: 2015

Last updated on: 2023-03-31 02:11:23 by Xiao P. Peng

OMIM: 616632

Orphanet: 477814

MONDO: 0014714

DOID: -

ClinGen:

To date, at least sixteen patients from nine unrelated families have been described with this syndromic condition (PMID: 36212620, 33662367, 26463574, 24781755). Patients typically present with progressive post-natal microcephaly, early-onset seizures, hypotonia, cortical blindness severely delayed psychomotor development, severe intellectual disability, short stature and failure-to-thrive. Brain imaging is often abnormal with evidence of dysmyelination and/or volume loss. Some patients may have craniosynostosis or café-au-lait macules. From an immune perspective, patients suffer from combined immunodeficiency leading to recurrent bacterial, viral, and fungal infections, particularly sinorespiratory. Immunophenotyping shows deficits in at least 1 major immunoglobulin class, poor or absent lymphocyte proliferative responses to mitogens antigens, and defective T- and B-cell maturation. Additionally, patients may also have clinical and laboratory evidence of inflammation and/or autoimmunity. At least 3 patients developed B cell lymphoma.

Management is largely symptomatic; no curative options are known for this condition. Experience with bone marrow transplant has not been reported and would not be expected to ameliorate the non-hematopoietic phenotypes.