SHORT syndrome

What is it?

A syndrome characterized by short stature (S), excessive joint weakness or hernia (groin) or both (H), sunken eyes (O), Rieger's anomaly (R), and delayed teething (T).

Causes and risk factors

This rare relationship has been reported in less than twenty patients.

The ratio is the same between affected men and women.

The cause is unknown, it may be autosomal dominant inheritance, and the affected parent has a 50% risk of having an affected child.

Which are the symptoms?

  • low growth
  • increased relaxation of joints
  • hernia
  • sunken eyes
  • Rieger's anomaly
  • delayed teething
  • glaucoma
  • dislocation of the pupil (Irektopia), pupil cracks or multiple pupils (polycoria)
  • peculiar facial features (triangular face shape, with hypoplasia of facial bones, deepening of the middle part of the face, thinning of the wings of the nose and micrognathia)
  • lipoatrophy / lipodystrophy of the face and extremities
  • insulin resistant diabetes
  • polycystic ovary
  • sensorineural deafness


How is it treated?

There is no specific therapy for this syndrome, but it is based on the treatment of individual symptoms.

Where do we treat it?

Within the San Donato Group, you can find SHORT syndrome specialists at these departments:

Are you interested in receiving the treatment?

Contact us and we will take care of you.