Meier-Gorlin syndrome
Updated: Wikipedia source
Meier-Gorlin syndrome, also known as ear-patella-short stature syndrome is a rare autosomal recessive genetic disorder, which is mainly characterized by pre- and postnatal growth deficiency, patellar aplasia or hypoplasia, and underdevelopment of both ears. Patients have characteristic facial signs, such as small mouth with full lips, receding jaw, hooked nose, and small ears with abnormal shape. Meier-Gorlin syndrome is considered to be one of the forms of microcephalic primordial dwarfism. Fewer than 150 cases had been recorded as of 2024.