Braddock-Carey syndrome (BRDCS) is a multiple malformation syndrome characterized by microcephaly, congenital thrombocytopenia, Pierre-Robin sequence, and agenesis of the corpus callosum. The genetic etiology of this syndrome has been identified as de novo microdeletions at 21q22.11. It has also been reported that mutations in KIF15 (chromosome 3p21) cause BRDCS. KIF15 is a member of the kinesin superfamily, microtubule-based motor proteins with important cellular functions ranging from intracellular transport to cell division.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02663 Braddock-Carey syndrome
