congenital myopathy 17

info · Genetic

A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15.

Signs and symptoms

Tented upper lip vermilion
Failure to thrive in infancy
Renal hypoplasia
Myopathy
Generalized hypotonia
Narrow jaw
Motor delay
Smooth philtrum
High palate
Clinodactyly