OPD Syndrome         
Family Resource Network

Oto-palatal-digital syndrome type II with X-linked
cerebellar hypoplasia/hydrocephalus.

Stratton RF, Bluestone DL. South Texas Genetics Center, San Antonio 78229.

We describe an infant with clinically apparent oto-palatal-digital syndrome Type II (OPD
II), who, in addition, also has hydrocephalus and cerebellar hypoplasia. This second
X-linked disorder has not been reported previously to occur in association with OPD II.
This patient had 2 maternal uncles who died neonatally with congenital hydrocephalus and
digital abnormalities consistent with OPD II. We suggest that these 2 entities may be
located near one another on the X chromosome, and that both loci are affected in this
family. Publication Types: Review Review of Reported Cases PMID: 1785627 [PubMed
- indexed for MEDLINE]