Living with SHORT syndrome
A rare genetic condition that affects many body parts, with short height, thin skin, eye differences and delayed teeth.
Understanding SHORT syndrome
Most people are small at birth and gain weight slowly in childhood. They have little fat under the skin, especially in the face, arms and chest, so they can look older than their age. Features include a triangular face, deep-set eyes, and eye differences such as Rieger anomaly, which can raise the risk of glaucoma. Teeth may come in late. Some people have problems with blood sugar.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Loss of fat under the skin (lipodystrophy)
- Eye differences, including glaucoma
- Dental problems and late teeth
- Very flexible joints
- Groin hernia
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PIK3R1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the PIK3R1 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: aarskog-ose-pande syndrome; lipodystrophy-rieger anomaly-diabetes syndrome; lipodystrophy, partial, with rieger anomaly and short stature; rieger anomaly-partial lipodystrophy syndrome; short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay
Patient organizations
- Little People of AmericaSHORT syndrome · United States
- FACES: The National Craniofacial AssociationSHORT syndrome · United States
- Human Growth FoundationSHORT syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with SHORT syndrome.
Explore research for SHORT syndrome
Explore actively recruiting SHORT syndrome studies with HealthSpark.
Find actively recruiting studies for SHORT syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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