Intellectual developmental disorder with cardiac defects and dysmorphic facies
Intellectual developmental disorder with cardiac defects and dysmorphic facies
Definition
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
Also known as intellectual developmental disorder with cardiac defects and dysmorphic facies, TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome — per MONDO