Living with Hypotrichosis-intellectual disability, Lopes type
A rare ectodermal dysplasia with sparse hair, fused fingers, intellectual disability, and early tooth eruption.
Understanding Hypotrichosis-intellectual disability, Lopes type
It involves sparse scalp hair and eyebrows (hypotrichosis), fused fingers (syndactyly), intellectual disability, and early eruption of teeth. Facial features may include a round face with prominent forehead, cheeks, and ears. Finger bones may be small and the upper back may curve forward. It begins in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse hair
- Fused fingers (cutaneous syndactyly)
- Intellectual disability
- Early eruption of teeth
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 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
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hypotrichosis and intellectual disability syndrome lopes type; lopes marques de faria syndrome; lopes-marques de faria syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
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Perspectives from people navigating life with Hypotrichosis-intellectual disability, Lopes type.
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