Aarskog's syndrome (faciodigitogenital dysplasia)

Aarskog syndrome also known as Aarskog-Scott Syndrome, Facio-digito-genital Syndrome or Faciogenital Dysplasia is a rare, X-linked disorder predominantly affecting males, characterized by facial, skeletal and genital anomalies. Aarskog syndrome (facio-digital-genital syndrome) was first described in 1970 by Dagfm Aarskog' who presented seven males from one family with a growth disorder and associated anomalies. A year later Scott reported three brothers with similar features and since then there have been over 100 cases published. 

A round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils

Aarskog syndrome has been assigned to the X chromosome on the basis of pedigree analysis but this interpretation remains open to doubt. The importance of shawl scrotum as a clinical feature produces a diagnostic bias in favour of males. 

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The facial features are often as obvious in female carriers as in male carriers, and in two large pedigrees male to male transmission has been found." In 1984, Bawle described a mother and son with Aarskog syndrome and an X;autosomal translocation. In the absence of linkage data to clarify the issue, the disorder is as likely to be a partially sex limited autosomal dominant localised by the autosomal element of the translocation.

Aarskog's syndrome - Extra finger on both hands, small nails.

A familial syndrome combining short stature, abnormal facies, and genital and hand and foot abnormalities. Characteristic features include a round face with a broad forehead, a broad nasal bridge with a short stubby nose and anteverted nostrils, hypertelorism, and a shawl (saddlebag) scrotum. There are also hand anomalies, and the cornea is usually enlarged. 

Males fully affected; female carriers sometimes exhibit phenotypical manifestations. The affected child has generally good health and developmental landmarks are within normal limits. In some cases, moderately impaired intelligence or early delay in motor performance, or both. Slow maturation from 3 years on.

Differential diagnosis 

The differential diagnosis of Aarskog syndrome includes Noonan syndrome and Robinow syndrome. Aarskog syndrome is not associated with heart defects or major genital abnormalities and caution should be exercised before making a diagnosis of Aarskog syndrome if they are present.

Dagfinn Aarskog (1928 - 2014), Norwegian paediatrian and human geneticist.

Dagfinn Aarskog

Dagfinn Aarskog studied medicine at the Universities of Oslo and Bergen, graduating from Bergen in 1956. He commenced a career in paediatrics at the children’s clinic at Haukeland sykehus in Bergen, where he received the medical doctorate in 1965. He spent the year 1964/1965 as a resercah fellow at the Johns Hopkins Hospital in Baltimore

Aarskog became a licensed specialist in children’s diseases in 1964, and of medical genetics in 1974. He became full professor and chairman in 1971, pro dean of the faculty of medicine at Bergen 1885-1888.

Aarskog was president of the European Society of Paediatric Endocrinology, honorary member of Finland's Barnläkareförening in 1900, and in 1991 of the Deutsche Gesellschaft für Kinderheilkunde. In 1992 he was awarded the order of ”Knight of the Order of St. Olav” (Ridder av St. Olavs Orden).

His research interests include perinatal endocrinology, calcium metabolism, growth, dysmorphology and cytogenetics. He has published more than 250 papers on these topics.

References

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