Living with Meier-Gorlin syndrome
A genetic condition with short stature that starts before birth, small or missing kneecaps, and small ears.
Understanding Meier-Gorlin syndrome
It is considered a form of primordial dwarfism because growth is slow before birth and continues slowly after birth. Other features are small or missing kneecaps, small ears, and often a small head. GARD says most people have normal intellect. Some have feeding difficulty, breathing problems, and differences in sexual development.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Small or missing kneecaps
- Small or unusually shaped ears
- Small head (microcephaly)
- Slow weight gain and feeding difficulties
- Breathing difficulties
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.
- 4Connect with expert centers
Hearing Loss Association 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); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hearing Loss Association 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 Hearing Loss Association 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
Changes in genes (also called variants) cause this condition. GARD lists both autosomal recessive and autosomal dominant inheritance. It does not name a specific gene here.
Also known as: ear-patella-short stature syndrome; ear, patella, short stature syndrome; mgors1; microtia, absent patellae, micrognathia syndrome
Patient organizations
- Hearing Loss Association of AmericaMeier-Gorlin syndrome · United States
- Human Growth FoundationMeier-Gorlin syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Meier-Gorlin syndrome.
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- Eligibility is confirmed by the study team
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