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Victor Almon McKusick
US medical geneticist, born 1921.
Associated eponyms:
Cross' syndrome
Disorder characterized by gingival fibromatosis, a reduction of pigment in the skin and eyes, microphthalmia, nystagmus, cloudy corneas, writhing movements of the arms and legs, a highly pitched cry, gingival fibromatosis and severe mental retardation.
Cushing's symphalangism
A syndrome of symphalangism with fusion of the midphalangeal joints, fusion of elbow and carpal and tarsal bones; absence of the normal articular folds.
Esterly-McKusick syndrome
A syndrome marked by flexion contracture of the fingers and toes, limited motion of other joints, and sclerodermatoid changes of the skin.
McKusick's catalogue
A catalogue of inheritable diseases according to the chromosome/gene localisation.
McKusick's type of metaphyseal chondrodysplasia
A syndrome of short-limbed dwarfism, leg bowing, and a variety of other skeletal features.
McKusick-Cross syndrome
Syndrome present from birth characterised by failure to thrive, repeated infections, diarrhoea, growth deficiency, short limbs, and small thorax.
McKusick-Kaufman syndrome
Distinct dysmorphy malformation syndrome in newborn with congenital hydrometrocolpos, respiratory embarrassment; urinary, intestinal, circulatory obstruction, congenital heart defect and postaxial polydactyly.
Mengel-Konigsmark-Berlin-McKusick syndrome
A syndrome of conductive hearing loss and malformed low-set ears.
Troyer syndrome
A very rare disorder with onset in childhood, marked by dysarthria and muscle wasting, mainly involving the thenar, hypothenar, and dorsal interosseous muscles; followed by spasticity and contractures of the lower limbs.
Werner's syndrome
A rare anomaly characterised by short legs due to absence of the tibia bilaterally, polydactyly of hands and feet, absence of thumbs, reduced knee movements.
Biography:
Victor Almon McKusick attended Tufts University and at the Johns Hopkins University School of Medicine, Baltimore, where he qualified M.D. in 1946. He subsequently trained in internal medicine and cardiology, and in 1946 he joined the faculty of the School of Medicine as a cardiologist. McKusick began studying Marfan syndrome and became interested in the field of medical genetics. He continued to make contributions to cardiology, such as adapting sound spectroscopy for analysis of heart sounds and publishing a unique catalog of heart sounds and murmurs in 1958. McKusick became full professor in 1960.
McKusick was chairman of the Department of Medicine from 1973 until 1985, when he resumed his previous post of porfessor of medical genetics.
McKusick has played an important role in the development of medical genetics and he is rightly regarded as a founder of this discipline. has played a large part in introducing the field of medical genetics into the mainstream of academic medicine. He studied the whole range of inherited human disorders and has been involved in the delineation of many genetic conditions. An important part of his contribution has been in the mapping the location of genes on chromosomes and relating gene location to human disease.
He and has published more than 500 articles. In 1966, he published the first edition of Mendelian Inheritance in Man (known as OMIM in its present internet version), the definitive source of information on human genes and genetic disorders. Successive editions of his catalogue have proved to be an essential tool in clinical genetics while his classic monograph Heritable Disorders of Connective Tissue represents the definitive work in this field.
McKusick was founding president of the Human Genome Organization (HUGO) in 1988, an international group whose goal is to promote mapping and sequencing of the entire human genome. This work os now largely successfully completed. In 1997, McKusick received the Albert Lasker Award for Special Achievement in Medical Science.
Outside his professional activities, McKusick is interested in photography, travel, history and orchid cultivation.
This article is based on:
The Alan Mason Chesney Medical Archives of The Johns Hopkins Medical Institutions. This material was derived form the Internet.
Peter & Gretha Beighton:
The Man Behind the Syndrome. Springer Verlag 1986.
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