Nearly all affected individuals have the following three features: cleft palate, cardiac defects and developmental delay or intellectual disability.
A large proportion of the individuals also have:
• A distinct facial phenotype with thin and arched eyebrows, thin upper lip, prominent nasal tip with short nasal wings, large ears.
• varying degrees of feeding problems
• varying degrees of developmental delay
o mild to moderate motor delay (the ability to crawl or walk)
o severe speech delay
• autism spectrum disorder
Some of the patients have:
• low muscle tone
• seizures
• hearing loss
• behavioral abnormalities e.g., repetitive or aggressive behaviour
• skeletal system abnormalities
o hypermobile joints
o scoliosis
o sandal gap
o syndactyly of toe II–III
o broad thumbs and toes
o genu valgum
• congenital lobar emphysema
• neutropenia
• dermatitis/eczema
MEIS2