(Monosomy 13q)

Chromosomal aberration (partial monosomy of the long arm of chromosome 13) causing craniofacial abnormalities (microcephaly, trigonocephaly, prominence of the base of the nose, low set and malformed ears, retrognathism), congenital heart defects, genitourinary anomalies (cryptorchidism, hypospadias) and malformations of the hands (missing or malformed thumbs). Cataract, microphthalmia, and genetic predisposition to retinoblastoma can be associated.

Anesthetic implications: 

Difficult intubation, craniosynostosis

Updated: August 2019