The LAPS Syndrome is a genetic disorder that overlaps with Myhre Syndrome.
Chromosome: 18q21.1
Gene affected: SMAD4
Many cases represent de novo mutations.
L = laryngotracheal stenosis
A = arthropathy
P = prognathism
S = short stature
Other findings:
(1) thickened skin
(2) muscular pseudohypertrophy
