Living with Hypertrichosis cubiti-short stature syndrome
A rare condition with extra hair on the elbows and arms, sometimes with short height, developmental delay, or speech differences.
Understanding Hypertrichosis cubiti-short stature syndrome
The extra hair is symmetrical and appears on the outer surfaces of the arms, especially the elbows. It is present from birth or starts early. Some people also have short height, developmental delay, facial differences, or intellectual disability. It begins in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra hair on the elbows and arms
- Severe short height
- Short upper arms and legs
- Round face
- Speech differences
- Facial asymmetry
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 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
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: 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 National Foundation for Ectodermal Dysplasias 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. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: elbow hypertrichosis; hairy elbow; hairy elbow syndrome; hairy elbows; hairy elbows syndrome; hypertrichosis cubiti
Patient organizations
- 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 Hypertrichosis cubiti-short stature syndrome.
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