SOFT syndrome is a rare hereditary osteocutaneous disorder caused by a mutation that affects bone, hair and nail formation.
Chromosome: 3p21.2
Gene: POC1A
Inheritance: autosomal recessive
Key features (SOFT):
(1) short stature (S): primordial dwarfism
(2) onychodysplasia (O)
(3) facial dysmorphism (F): triangular facies, prominent nose, small ears
(4) hypotrichosis (T): sparse hair
Other findings:
(1) symmetric shortening of long bones with cone-shaped epiphyses
(2) short, thickened distal phalanges
(3) hypoplastic sacrum
