Living with Odontotrichomelic syndrome
A very rare ectodermal dysplasia affecting hair, teeth, nails, and all four limbs.
Understanding Odontotrichomelic syndrome
Main problems include malformed limbs with missing bones in the hands and feet, abnormal teeth, and sparse hair. Nails may be very small or underdeveloped, and ears may be malformed. Excess sweating may occur. The face can look unusual, with a high forehead and a long neck. GARD lists childhood as the usual onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Malformed arms and legs with missing hand and foot bones
- Abnormal teeth
- Sparse hair (hypotrichosis)
- Small or underdeveloped nails
- Ear differences
- Excess sweating (hyperhidrosis)
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 ear, nose, and throat specialists, genetic specialists, gum, teeth and mouth 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 and World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, World Craniofacial Foundation
- 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
GARD says the cause is unknown. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: freire-maia odontotrichomelic syndrome; freire-maia syndrome; odontotrichomelic hypohidrotic dysplasia; tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
Patient organizations
- National Foundation for Ectodermal DysplasiasOdontotrichomelic syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Odontotrichomelic syndrome.
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