SHORT syndrome is a very rare congenital disease. Children with SHORT syndrome are believed to suffer from a combination of birth defects including (S) short stature, (H) hyperextensibility in the joints, (O) ocular depression, (R) Reiger's disease and (T) teething delays. While this combination of birth defects is considered standard in SHORT syndrome cases, children born with this disorder may experience additional secondary symptoms.
Often, SHORT syndrome can cause sensorineural hearing loss and lipodystrophy, or loss of the subcutaneous fat layer. Children often experience a delayed development of speech skills, despite the fact that there is normally no cognitive impairment associated with this condition. The face may appear disproportionately small compared to the rest of the features, and may be triangular in shape. The ears may be positioned unusually low on the head, and the chin may be unusually small, often with a dimple.
Children born with this disorder suffer from Rieger's disease, which affects the structures of the eye, so they may suffer from vision problems and be more prone to developing glaucoma. Teeth are often unusually small, inadequately developed, and abnormally shaped. Children with SHORT syndrome often begin experiencing physical growth retardation while still in the womb, and may grow very slowly after birth. They may be especially vulnerable to illness in childhood, and may suffer complications including heart murmur and inguinal hernia. Later in life, they may be at increased risk for early-onset type 2 diabetes, even if they do not become overweight or obese.
Though children with SHORT syndrome may experience delays in development before and after birth, they are often found to have normally functioning endocrine systems. While these children do not typically suffer cognitive impairment, they may experience academic or social problems due to their smaller size and various physical differences or disabilities.
Researchers do not yet understand what causes this rare and often inherited condition. In most cases, the parents of children with SHORT syndrome have not been found to suffer from any form of growth retardation themselves, though certain singular characteristics, such as the chin dimple, may be present in one or both parents. Some cases may have been diagnosed as progeria, a serious genetic condition that normally causes rapid and premature aging.