Also known as: Aarskog-Scott syndrome
Aarskog syndrome is a rare inherited condition characterised by short stature and facial, genital and skeletal anomalies. It is also sometimes associated with late dentition (eruption of teeth), more frequent caries (tooth decay) and some missing second teeth, and cleft lip and/or palate. Umbilical hernia (where the belly button sticks out) and inguinal hernia (swelling in the groin from a weakness in the abdominal wall) are also common. Additionally, about ten per cent of people with Aarskog syndrome have mild learning disability or behavioural difficulties, and heart problems have been noted in some affected families. The condition affects mainly males, although females may have milder features. As Aarskog syndrome is associated with a wide range of symptoms and affects individuals differently, not all features of the syndrome will be found in each individual. It is caused by mutations in the FGDY1 gene found on the X chromosome. Diagnosis is based on the recognition of the distinctive pattern of facial anomalies, short stature, and characteristic urogenital anomalies. X-rays can reveal other distinctive abnormalities. 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.
Medical text approved March 2014 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.
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Aarskog Foundation UK
The Aarskog Foundation UK is a Registered Charity in Scotland no. SCO48708. They aim to provide support to all those affected by Aarskog Syndrome, their friends, families and carers. They provide information, raise awareness of the condition and aim to bring families together.They also have different Facebook Groups to support families and professionals.
Group details updated March 2020.