Braddock-carey syndrome 1- MedGen UID:
- 1823961
- •Concept ID:
- C5774188
- •
- Disease or Syndrome
Braddock-Carey syndrome (BRDCS) is characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly (Braddock et al., 2016).
Genetic Heterogeneity of Braddock-Carey Syndrome
BRDCS2 (619981) is caused by mutation in the KIF15 gene (617569) on chromosome 3p21.