Otopalatodigital syndrome type 2
Otopalatodigital syndrome type 2
Definition
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
Also known as OPD 2 syndrome, OPD II syndrome, OPD syndrome 2, Otopalatodigital Syndrome Type I and II, otopalatodigital syndrome, type II, X-linked dominant — per MONDO