Seckel syndrome type 4

Seckel syndrome type 4

A rare autosomal recessive disorder (OMIM:613676) characterised by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed-like appearance, and mental retardation.
Molecular pathology
Defects of CENPJ, which encodes a protein involved in centrosome function, cause Seckel syndrome type 4.