Onset in the first months of life. Generalized
thickening of skin and severe growth retardation are the main features.
Other signs involve skin and hair (hyperkeratosis, increased pigmentation, increased
body hair, bushy eyebrows), face (round face with down-turned mouth),
musculoskeletal (abnormal gait, restricted joint mobility, osteoporosis, tapered fingers),
and chest (pectus carinatum, abnormally placed nipples, respiratory distress).