Aarskog syndrome: Aarskog-Scott syndrome
Aarskog syndrome is a rare inherited condition described in 1970 by Dr D Aarskog and Dr C I Scott in 1971. It is a development disorder characterised by short stature with facial, genital and skeletal anomalies. The condition affects mainly males, although females may have milder features. Aarskog syndrome is associated with a wide range of features and not all features of the syndrome will be found in each individual; it affects individuals differently.
It has been estimated that the syndrome affects about 1 in 1,000,000 births but mildly affected individuals may not have been identified so the incidence may be considerably higher. Aarskog syndrome is caused by mutations in the FGDY1 gene found on the X chromosome.
What are the symptoms?
Aarskog syndrome is associated with :
a characteristic facial appearance which may include a rounded face;
a ‘widow’s peak’ hairline;
hypertelorism and ptosis (wide set eyes with ‘drooping eyelids’);
palpebral fissures (large downward slanted eyes);
a shawl scrotum (the pouch containing the testes enclosing the base of the penis);
possible undescended testes and inguinal hernias;
short stature that may not he obvious until the child is between one to three years old;
some tissue webbing between fingers, joint hypermobility, abnormal shortness of fingers and toes and a single crease across the palm of the hands;
Other features can include:
late dentition (eruption of teeth) with more frequent caries (tooth decay) and some missing second teeth and cleft lip/palate;
mild learning disability in about ten per cent of individuals with Aarskog syndrome. Dyspraxia, Dyslexia and ADHD can also be present. Social skills are not affected in Aarskog syndrome although boys may lack confidence;
later puberty for some boys than their peers. Some males may show reduced fertility;
occasional anomalies of the cervical vertebrae (bones of the spine in the neck area), cervical spine hypermobility and spina bifida. Pectus excavatum (depressed chest) has been noted.
Diagnosis is based on the recognition of the distinctive pattern of craniofacial anomalies, disproportionate short stature, characteristic urogenital anomalies and shortening of the distal extremities (hands and feet). X-rays can reveal other distinctive abnormalities.
How is it treated?
Aarskog syndrome cannot be cured but there may be surgical procedures and physiotherapy available for specific features of the syndrome. Where growth is very restricted, growth hormone treatment has proved effective for some individuals.
Inheritance patterns and prenatal diagnosis
Aarskog syndrome is inherited as an X-linked recessive condition.
Prenatal testing may occasionally be available in cases where a family member has a known mutation but it is not usually possible.