/otopalatodigital syndrome type 1

otopalatodigital syndrome type 1

Rare Disease

MONDO:0010704

Also Known As

OPD 1 syndromeOPD I syndromeOPD syndrome 1OPD1Taybi syndromeoto-palato-digital syndrome type 1otopalatodigital syndrome, type 1otopalatodigital syndrome, type Iotopalatodigital syndrome, type I, X-linked dominantOPD syndromefrontootopalatodigital osteodysplasiaotopalatodigital spectrum disorder

Definition

The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.