What is Schinzel-Giedion syndrome?
Schinzel-Giedion syndrome (SGS) is a very rare disorder. This syndrome is apparent at birth and affects many body systems. Children with SGS have serious health problems, such as: developmental delay, visual and/or hearing impairment, epilepsy, feeding problems and congenital anomalies. These may include kidney problems, genital anomalies, bone anomalies and heart defects. Children with SGS have an increased risk to develop cancer before birth or during infancy or childhood.
Sometimes kidney anomalies or a large tongue may have been noted on ultrasound before birth. But in the majority, SGS is diagnosed after birth or during infancy.
Psychomotor development
Individuals show severe psychomotor delay and may show signs of spasticity. Deafness and blindness are present in the majority. Almost all common types of epilepsy occur and is often characterised by seizures which are difficult to treat. Structural brain anomalies are variable.
Congenital anomalies
Urogenital anomalies are common. Underdeveloped genitalia are present in the majority. Renal anomalies are also very common and include cysts and stones, for example.
Half of the individuals show a cardiac anomaly, the majority of which present with atrial septum defects.
Several internal organ anomalies have been reported. Difficulties in swallowing and breathing are due to anomalies in the respiratory tract and an excessive presence of mucus.
Facial appearance
Facial features are characterised by a prominent forehead, midface retraction, a crease under the eyes, a short upturned nose, a wide mouth with a large tongue and ear malformations. Other physical characteristics may include an inability to secrete tears, excessive hair and anomalies in fingers or toes. On X-rays a sclerotic base of the skull (the bones at the base of the skull are abnormally hard or thick), broad ribs and some other minor features may be noted.
Schinzel-Giedion syndrome is caused by changes in a specific gene: the SETBP1 gene. Currently there are only a few people who suffer from SGS. It is therefore hard to delineate the full symptom spectrum of this disorder and we do not yet fully understand this disease. SGS occurs in people with no history of the disorder in the family.
Treatment of SGS is based upon decreasing the symptoms as much as possible. The majority of children do not survive past childhood due to complications of serious health problems mentioned above.