Living with Langer-Giedion syndrome
A genetic condition with bone growths, distinctive facial features, intellectual disability, and differences in hair, nails, and teeth.
Understanding Langer-Giedion syndrome
The name refers to the hair, nose, and fingers and toes. People have multiple noncancerous bone growths called osteochondromas, which usually begin in infancy to early childhood and stop forming around adolescence. They can cause pain, limited joint movement, or pressure on blood vessels or the spinal cord. Growth is slow and height is short. Nails are thin. Children often have very flexible joints that later stiffen. Hip dysplasia can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple bony growths (exostoses, osteochondromas)
- Short stature
- Intellectual disability
- Bulbous nose and long upper lip groove
- Sparse scalp hair and thick eyebrows
- Very flexible joints and joint dislocation
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Little People of America and National Foundation for Ectodermal Dysplasias 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); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Little People of America, National Foundation for Ectodermal Dysplasias
- 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 Little People 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: chromosome 8q24.1 deletion syndrome; deletion 8q24.1; monosomy 8q24.1; trichorhinophalangeal dysplasia type ii; trichorhinophalangeal syndrome ii; trichorhinophalangeal syndrome type 2
Patient organizations
- Little People of AmericaLanger-Giedion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Langer-Giedion syndrome.
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