The short stature-hyperextensibility-rieger syndrome is a rare genetic disorder that affects the development of the body.
The four risk factors of the short stature-hyperextensibility-rieger syndrome are:
1. Short stature
2. Hyperextensibility of the joints (especially the elbows, knees, and fingers)
3. Hypermobility of the joints (i.e., easy bending or stretching)
4. Rieger anomaly
1. The majority of cases are caused by a mutation in the gene for collagen type I alpha 1, which is responsible for making collagen. Collagen is a protein that helps give structure to our cells and tissues.
2. Collagen is found throughout the body and is particularly important in bones, tendons, cartilage, ligaments, and skin. In short stature-hyperextensibility-rieger syndrome, the mutation causes a lack of collagen in some parts of the body and an excess of collagen in other parts. This imbalance can lead to a number of different symptoms including:
3. Short stature: People with short stature-hyperextensibility-rieger syndrome are often shorter than normal and have unusually long legs, arms, fingers and toes. They may also have an abnormal curvature of their spine (scoliosis).
4. Hyperextensibility: The joints are loose or hypermobile so they easily dislocate or subluxate (wiggle out).
5. Rieger anomaly: This occurs when there are abnormalities in bones of the face such as cleft lip or palate; it may also include malformations of the eyes, ears and nose.
A curved spine,A high arch in the back and/or chest that makes it hard for them to stand up straight,Joints that are dislocated easily (especially the knees)
Vascular Ehlers-Danlos syndrome (vEDS),Marfan syndrome (MFS),Fibrodysplasia ossificans progressiva (FOP),Spondyloepiphyseal dysplasia congenita (SEDC),Pseudoxanthoma elasticum (PXE)
Acromegaly,Hyperthyroidism,Pseudohypoparathyroidism,Congenital short stature,Laron syndrome