Dysmorphology

Dysmorphology is the study of altered form. In genodermatosis syndromes, it becomes necessary to look beyond the skin to recognize alterations in facial features and other body structures which may collectively aid in making an accurate diagnosis. A head to toe examination of the affected individual with an accurate description of the abnormalities seen is essential in this process. Loss of subcutaneous fat: Based on the chronological age and the subcutaneous fat content, premature aging syndromes can be identified with a progeroid appearance in syndromes such as Hutchinson-Gilford progeria or Cockayne syndrome. This is usually accompanied with deep-set eyes caused by loss of subcutaneous fat in the periorbital region.