Living with 12q14 microdeletion syndrome
A genetic condition caused by a missing piece of chromosome 12 that can slow growth and development.
Understanding 12q14 microdeletion syndrome
Signs depend on the size of the missing piece and the genes involved. They generally include slow growth, short stature, and feeding difficulties. When it is inherited, it is passed on in a dominant pattern. It can be diagnosed with a genetic test, either a chromosomal microarray or whole exome sequencing. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Delayed speech and language
- Global developmental delay
- Mild intellectual disability
- Not gaining weight as expected
- Specific learning disability
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- 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 Human Growth Foundation 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 says changes in genes (also called variants) cause this condition. It is caused by a missing piece of chromosome 12, and when inherited it follows a dominant pattern.
Also known as: del(12)(q14); deletion 12q14; monosomy 12q14; osteopoikilosis with short stature and intellectual disability syndrome; osteopoikilosis-short stature-intellectual disability syndrome
Patient organizations
- Human Growth Foundation12q14 microdeletion syndrome · United States
- The MAGIC Foundation12q14 microdeletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with 12q14 microdeletion syndrome.
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