a tubular-shaped nose, narrow palpebral fissures, thin hair, periorbital fullness, strabismus, hypertelorism (wide distance of inner corners of the eye), a short philtrum (connection lower side of the nose to the upper side of the upper lip) and an often present grimace.
Facial features of GAND
Last modified
8 March 2020
HPO
HP:0000748 Inappropriate laughter
HP:0002213 Fine hair
HP:0000316 Hypertelorism
HP:0000322 Short philtrum
Feature
Many chromosomal abnormalities present with - sometimes characteristic- facial features, such as
- chromosomal (1q21.3) microdeletion or autosomal dominant mental retardation-18
Rare Condition
Autosomal dominant mental retardation-18
The name of this condition comprises GATAD2B ‘syndrome’ or GAND as well as ‘severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome’.
The cause is a loss...
