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


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