Living with Short-limb skeletal dysplasia with severe combined immunodeficiency
An extremely rare genetic condition with a very weak immune system and short, bowed limbs.
Understanding Short-limb skeletal dysplasia with severe combined immunodeficiency
People have the usual signs of SCID: severe and repeated infections, diarrhea, poor weight gain, and no T or B lymphocytes (infection-fighting cells). They also have bone differences, including short stature, bowed long bones and changes at the ends of the long bones. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very weak immune system (SCID)
- Repeated lung and airway infections
- Few infection-fighting white blood cells
- Fine hair
- Weaker, less dense bones
- Short, bowed limb bones
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 allergy and immune system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation
- 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 doesn't list a gene. The condition is inherited in an autosomal recessive way, so a child inherits a changed copy of a gene from each parent.
Also known as: achondroplasia-scid syndrome; achondroplasia-severe combined immunodeficiency syndrome; achondroplasia-swiss type agammaglobulinemia syndrome; achondroplasia, severe combined immunodeficiency syndrome; immunodeficiency-short limb dwarfism syndrome; immunodeficiency, short limb dwarfism syndrome
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- 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-limb skeletal dysplasia with severe combined immunodeficiency.
Explore research for Short-limb skeletal dysplasia with severe combined immunodeficiency
Explore actively recruiting Short-limb skeletal dysplasia with severe combined immunodeficiency studies with HealthSpark.
Find actively recruiting studies for Short-limb skeletal dysplasia with severe combined immunodeficiency 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-limb skeletal dysplasia with severe combined immunodeficiency 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-limb skeletal dysplasia with severe combined immunodeficiency
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-limb skeletal dysplasia with severe combined immunodeficiency 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.