Living with Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
A rare genetic condition with bone differences, delayed development and sometimes a weak immune system.
Understanding Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
People have developmental delay, variable intellectual disability and bone differences, including short stature, spine and chest changes. Many also have a weakness in infection-fighting T cells. Facial features may include a coarse face and widely spaced eyes. Seizures, low muscle tone and liver cysts have been reported. Signs begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Intellectual disability
- Short stature with bone differences
- Neck spine differences
- Low lymphocyte count
- Small head (microcephaly)
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, bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in EXTL3 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
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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 lists changes in the EXTL3 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome; extl3-related neuro-immuno-skeletal dysplasia syndrome; neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency; neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency; skeletal dysplasia, t-cell immunodeficiency, developmental delay 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 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome.
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