Living with Short stature due to primary acid-labile subunit deficiency
A rare genetic condition with moderate slow growth, low growth-factor levels and high insulin.
Understanding Short stature due to primary acid-labile subunit deficiency
Children have a moderate slowdown in growth after birth and low IGF-1 and IGFBP-3 levels. Insulin levels are high. Growth hormone levels and response are normal. Other features can include delayed bone maturation, delayed puberty, weight around the middle and a small lower jaw. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Delayed bone maturation
- Delayed puberty
- Insulin resistance
- Weight carried around the middle
- Small lower jaw (micrognathia)
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 genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in IGFALS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 IGFALS gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acid-labile subunit deficiency; acid-labile subunit, deficiency of
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Short stature due to primary acid-labile subunit deficiency.
Explore research for Short stature due to primary acid-labile subunit deficiency
Explore actively recruiting Short stature due to primary acid-labile subunit deficiency studies with HealthSpark.
Find actively recruiting studies for Short stature due to primary acid-labile subunit deficiency 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Short stature due to primary acid-labile subunit deficiency studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Short stature due to primary acid-labile subunit deficiency
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Short stature due to primary acid-labile subunit deficiency experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.