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

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